{
  "resourceType": "StructureDefinition",
  "id": "NHSEngland-FamilyMemberHistory-Genomics",
  "url": "https://fhir.nhs.uk/StructureDefinition/NHSEngland-FamilyMemberHistory-Genomics",
  "version": "0.3.0",
  "name": "NHSEngland_FamilyMemberHistory_Genomics",
  "title": "NHSEngland FamilyMemberHistory Genomics",
  "status": "active",
  "date": "2026-04-16",
  "publisher": "NHS England",
  "contact": [
    {
      "name": "NHS England",
      "telecom": [
        {
          "system": "email",
          "value": "interoperabilityteam@nhs.net",
          "use": "work",
          "rank": 1
        }
      ]
    }
  ],
  "description": "This profile defines the Genomics constraints and extensions on the UK Core FHIR resource [FamilyMemberHistory](https://fhir.hl7.org.uk/StructureDefinition/UKCore-FamilyMemberHistory).",
  "purpose": "For collecting relevant Family Member History to aid interpretation of Genomic results. This is limited to collection of Pedigree information. The FamilyMemberHistory resource is not to be used to record participants involved in testing, e.g. in the case of Duo/Trio scenarios (in this case the RelatedPerson resource SHOULD be used instead).",
  "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.",
  "fhirVersion": "4.0.1",
  "kind": "resource",
  "abstract": false,
  "type": "FamilyMemberHistory",
  "baseDefinition": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-FamilyMemberHistory",
  "derivation": "constraint",
  "differential": {
    "element": [
      {
        "id": "FamilyMemberHistory.extension:fMHObservation",
        "path": "FamilyMemberHistory.extension",
        "sliceName": "fMHObservation",
        "definition": "An extension on the FamilyMemberHistory resource to include Observations relevant to Genomic testing/interpretation.\r\n",
        "type": [
          {
            "code": "Extension",
            "profile": [
              "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation"
            ]
          }
        ]
      },
      {
        "id": "FamilyMemberHistory.identifier",
        "path": "FamilyMemberHistory.identifier",
        "definition": "This SHOULD be NHS number or local identifier (if NHS number is unavailable e.g. for non UK residents), though this MAY be omitted if no identifier for the family member is known. If a local identifier is used, an assigner SHALL be provided. The FamilyMemberHistory.identifier field SHALL match the identifier used for a RelatedPerson resource if the same person is being referenced.",
        "max": "1"
      },
      {
        "id": "FamilyMemberHistory.status",
        "path": "FamilyMemberHistory.status",
        "definition": "Used to mark the completeness of a given family member's clinical history. If the history of a family member is expected but no history could be obtained, this element SHOULD be filled with 'health-unknown'.\r\nAssertions regarding absence of relevant history SHOULD follow guidance within the HL7 FHIR R4 FamilyMemberHistory resource"
      },
      {
        "id": "FamilyMemberHistory.patient",
        "path": "FamilyMemberHistory.patient",
        "definition": "SHALL be present. Reference to the associated proband Patient for which this family history is being obtained. This MAY be through a resource reference if the ID on the central service is known (or provided within the transaction bundle) or through NHS number where this is known and has been traced through PDS",
        "type": [
          {
            "code": "Reference",
            "targetProfile": [
              "https://fhir.nhs.uk/StructureDefinition/NHSEngland-Patient-Genomics",
              "http://hl7.org/fhir/StructureDefinition/Patient"
            ],
            "aggregation": [
              "referenced",
              "bundled"
            ]
          }
        ]
      },
      {
        "id": "FamilyMemberHistory.relationship",
        "path": "FamilyMemberHistory.relationship",
        "definition": "SHALL be present. Relationship between the person the FamilyMemberHistory references and the proband Patient. Clinical histories for each family member are expected to be recorded in separate FamilyMemberHistory resources. If multiple resources are required, both FamilyMemberHistory and related clinical artifacts such as Condition/Observation resources, these MAY be contained within a List resource to improve readability."
      }
    ]
  }
}