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KazeemHamzatKazeemHamzat
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Merge branch 'main' of https://github.com/NHSDigital/NHSDigital-FHIR-Genomics-ImplementationGuide into Patch-IOPS-4298--genomics-Validation-Issues
2 parents 8dc7295 + 20fe360 commit b7048a4

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‎CapabilityStatement/CapabilityStatement-genomics-requirements.json‎

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"resourceType": "CapabilityStatement",
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"id": "CapabilityStatement-Genomics-requirements",
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"url": "https://fhir.nhs.uk/CapabilityStatement/genomics-requirements",
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"version": "0.3.0",
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"version": "0.3.1",
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"name": "GenomicsRequirements",
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"status": "draft",
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"date": "2026-01-14T00:00:00+00:00",
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"date": "2026-06-11T00:00:00+00:00",
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"publisher": "digital.nhs.uk",
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"description": "Conformance requirements for NHS Digital Genomics Implementation Guide",
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"kind": "requirements",

‎Composition/Composition-EULabGenomicReport-Example.json‎

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{
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"resourceType": "Composition",
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"id": "Composition-EULabGenomicReport-Example",
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"meta": {
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"profile": [
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"http://hl7.eu/fhir/laboratory/StructureDefinition/Composition-eu-lab"
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]
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},
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"extension": [
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{
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"url": "http://hl7.eu/fhir/StructureDefinition/composition-basedOn-order-or-requisition",
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"valueReference": {
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"reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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}
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},
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{
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"url": "http://hl7.eu/fhir/StructureDefinition/information-recipient",
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"valueReference": {
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"reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example"
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}
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"resourceType": "Composition",
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"id": "Composition-EULabGenomicReport-Example",
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"meta": {
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"profile": [
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"http://hl7.eu/fhir/laboratory/StructureDefinition/Composition-eu-lab"
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]
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},
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{
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"url": "http://hl7.eu/fhir/laboratory/StructureDefinition/composition-diagnosticReportReference",
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"valueReference": {
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"reference": "DiagnosticReport/DiagnosticReport-GenomicVariantAssessment-Example"
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}
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}
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],
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"identifier": {
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"extension": [
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{
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"url": "http://hl7.eu/fhir/StructureDefinition/composition-basedOn-order-or-requisition",
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"valueReference": {
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"reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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}
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},
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{
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"url": "http://hl7.eu/fhir/StructureDefinition/information-recipient",
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"valueReference": {
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"reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example"
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}
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},
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{
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"url": "http://hl7.eu/fhir/laboratory/StructureDefinition/composition-diagnosticReportReference",
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"valueReference": {
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"reference": "DiagnosticReport/DiagnosticReport-GenomicVariantAssessment-Example"
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}
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}
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],
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/genomic-report",
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"value": "GR-12345"
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},
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"status": "final",
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"type": {
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"coding": [
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{
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"system": "http://loinc.org",
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"code": "51969-4",
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"display": "Genetic analysis report"
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}
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]
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},
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"category": [
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{
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"coding": [
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"status": "final",
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"type": {
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"coding": [
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{
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"system": "http://loinc.org",
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"code": "51969-4",
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"display": "Genetic analysis report"
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}
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]
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},
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"category": [
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{
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"coding": [
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{
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"system": "http://loinc.org",
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"code": "26436-6",
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"display": "Laboratory studies (set)"
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}
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]
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},
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{
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"system": "http://loinc.org",
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"code": "26436-6",
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"display": "Laboratory studies (set)"
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"coding": [
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{
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"system": "http://snomed.info/sct",
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"code": "1236877003",
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"display": "Genetic pathology"
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}
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]
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}
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],
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"subject": {
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"reference": "Patient/Patient-PheobeSmitham-Example",
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/nhs-number",
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"value": "9449307539"
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}
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]
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},
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{
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"coding": [
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"date": "2023-10-16T00:00:00-05:00",
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"author": [
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{
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"system": "http://snomed.info/sct",
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"code": "1236877003",
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"display": "Genetic pathology"
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/ods-organization-code",
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"value": "R0A"
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}
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}
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]
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}
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],
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"subject": {
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"reference": "Patient/Patient-PheobeSmitham-Example",
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/nhs-number",
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"value": "9449307539"
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}
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},
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"date": "2023-10-16T00:00:00-05:00",
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"author": [
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{
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/ods-organization-code",
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"value": "R0A"
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}
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}
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],
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"title": "Example Genomic Laboratory (Single) Report",
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"section": [
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{
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"title": "Results",
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"text": {
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],
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"title": "Example Genomic Laboratory (Single) Report",
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"section": [
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{
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"title": "Results",
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"text": {
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"status": "generated",
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"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">Genomic findings.</div>"
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},
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"code": {
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"coding": [
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{
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"system": "http://loinc.org",
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"code": "26436-6",
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"display": "Laboratory studies (set)"
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}
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]
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},
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"entry": [
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{
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"reference": "Observation/Observation-GenomicTherapeuticImplication-Example"
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},
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{
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"reference": "Observation/Observation-GenomicsVariantSLC52A2-Example"
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"code": {
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"coding": [
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{
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"system": "http://loinc.org",
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"code": "26436-6",
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"display": "Laboratory studies (set)"
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}
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]
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},
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"entry": [
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{
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"reference": "Observation/Observation-GenomicTherapeuticImplication-Example"
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},
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{
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"reference": "Observation/Observation-GenomicsVariantSLC52A2-Example"
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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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]
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}

‎ConceptMap/ConceptMap-Genomics-chromosomal-sex.json‎

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"name": "GenomicsChromosomalSex",
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"title": "Genomics Chromosomal Sex",
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"status": "draft",
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"date": "2026-06-03T00:00:00.000Z",
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"date": "2026-06-11T10:33:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{

‎ConceptMap/ConceptMap-Genomics-fetal-maternal-screening-genotype.json‎

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"name": "GenomicsFetalMaternalScreeningGenotype",
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"title": "Genomics Fetal Maternal Screening Genotype",
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"status": "draft",
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"date": "2026-06-03T00:00:00.000Z",
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"date": "2026-06-11T21:00:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{

‎ConceptMap/ConceptMap-Genomics-risk-reason-for-specimen-specialhandling.json‎

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"name": "GenomicsRiskReasonForSpecimenSpecialHandling",
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"title": "Genomics Risk Reason for Specimen Special Handling",
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"status": "draft",
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"date": "2026-06-03T00:00:00.000Z",
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"date": "2026-06-11T11:00:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{

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