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List-example-double-cousin-relationship-pedigree.json

FHIR Infrastructure Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Device, Patient, Practitioner

Raw JSON (canonical form + also see JSON Format Specification)

Simple genetic pedigree tree example with double cousin replationship

{
  "resourceType": "List",
  "id": "example-double-cousin-relationship",
  "text": {
    "status": "generated",
    "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-double-cousin-relationship</p><p><b>contained</b>: , , , , , </p><p><b>status</b>: current</p><p><b>mode</b>: snapshot</p><p><b>code</b>: TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal <span>(Details : {LOINC code '80738-8' = 'TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal', given as 'TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal'})</span></p><p><b>subject</b>: <a>Pam Taylor</a></p><blockquote><p><b>entry</b></p><p><b>item</b>: id: 1; status: completed; name: Mary; natural mother <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'NMTH' = 'natural mother', given as 'natural mother'})</span>; deceased</p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 2; status: completed; name: Bob; paternal uncle <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'PUNCLE' = 'paternal uncle', given as 'paternal uncle'})</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 3; status: completed; name: Jon; maternal uncle <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MUNCLE' = 'maternal uncle', given as 'maternal uncle'})</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 4; status: completed; name: Alica; maternal grandmother <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MGRMTH' = 'maternal grandmother', given as 'maternal grandmother'})</span>; 70 yr<span> (Details: UCUM code a = 'a')</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 5; status: completed; name: Aunt with Parent ID; maternal aunt <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MAUNT' = 'maternal aunt', given as 'maternal aunt'})</span>; Female <span>(Details : {http://hl7.org/fhir/administrative-gender code 'female' = 'Female', given as 'Female'})</span>; 55 yr<span> (Details: UCUM code a = 'a')</span></p></blockquote><blockquote><p><b>entry</b></p><p><b>item</b>: id: 6; status: completed; name: Paul; Paternal grandfather <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'PGRFTH' = 'paternal grandfather', given as 'Paternal grandfather'})</span>; 74 yr<span> (Details: UCUM code b = 'b')</span></p></blockquote></div>"
  },
  "contained": [
    {
      "resourceType": "FamilyMemberHistory",
      "id": "1",
      "status": "completed",
      "patient": {
        "reference": "Patient/example",
        "display": "Pam Taylor"
      },
      "name": "Mary",
      "relationship": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
            "code": "NMTH",
            "display": "natural mother"
          }
        ],
        "text": "natural mother"
      },
      "deceasedBoolean": true,
      "condition": [
        {
          "code": {
            "coding": [
              {
                "system": "http://snomed.info/sct",
                "code": "73211009",
                "display": "Diabetes mellitus"
              }
            ],
            "text": "Diabetes mellitus"
          },
          "onsetAge": {
            "value": 45,
            "unit": "yr",
            "system": "http://unitsofmeasure.org",
            "code": "a"
          }
        }
      ]
    },
    {
      "resourceType": "FamilyMemberHistory",
      "id": "2",
      "status": "completed",
      "patient": {
        "reference": "Patient/example",
        "display": "Pam Taylor"
      },
      "name": "Bob",
      "relationship": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
            "code": "PUNCLE",
            "display": "paternal uncle"
          }
        ],
        "text": "paternal uncle"
      },
      "condition": [
        {
          "code": {
            "coding": [
              {
                "system": "http://snomed.info/sct",
                "code": "1481000119100",
                "display": "Diabetes mellitus type 2 without retinopathy"
              }
            ],
            "text": "Diabetes mellitus type 2 without retinopathy"
          },
          "onsetAge": {
            "value": 35,
            "unit": "yr",
            "system": "http://unitsofmeasure.org",
            "code": "a"
          }
        }
      ]
    },
    {
      "resourceType": "FamilyMemberHistory",
      "id": "3",
      "status": "completed",
      "patient": {
        "reference": "Patient/example",
        "display": "Pam Taylor"
      },
      "name": "Jon",
      "relationship": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
            "code": "MUNCLE",
            "display": "maternal uncle"
          }
        ],
        "text": "maternal uncle"
      }
    },
    {
      "resourceType": "FamilyMemberHistory",
      "id": "4",
      "extension": [
        {
          "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling",
          "extension": [
            {
              "url": "type",
              "valueCodeableConcept": {
                "coding": [
                  {
                    "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                    "code": "NSIS",
                    "display": "natural sister"
                  }
                ],
                "text": "natural sister"
              }
            },
            {
              "url": "reference",
              "valueReference": {
                "reference": "FamilyMemberHistory/mother",
                "display": "paternal grandmother"
              }
            }
          ]
        }
      ],
      "status": "completed",
      "patient": {
        "reference": "Patient/example",
        "display": "Pam Taylor"
      },
      "name": "Alica",
      "relationship": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
            "code": "MGRMTH",
            "display": "maternal grandmother"
          }
        ],
        "text": "maternal grandmother"
      },
      "ageAge": {
        "value": 70,
        "unit": "yr",
        "system": "http://unitsofmeasure.org",
        "code": "a"
      }
    },
    {
      "resourceType": "FamilyMemberHistory",
      "id": "5",
      "extension": [
        {
          "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent",
          "extension": [
            {
              "url": "type",
              "valueCodeableConcept": {
                "coding": [
                  {
                    "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                    "code": "MTH",
                    "display": "mother"
                  }
                ],
                "text": "mother"
              }
            },
            {
              "url": "reference",
              "valueReference": {
                "reference": "FamilyMemberHistory/147146",
                "display": "maternal grandmother"
              }
            }
          ]
        }
      ],
      "status": "completed",
      "patient": {
        "reference": "Patient/example",
        "display": "Pam Taylor"
      },
      "name": "Aunt with Parent ID",
      "relationship": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
            "code": "MAUNT",
            "display": "maternal aunt"
          }
        ],
        "text": "maternal aunt"
      },
      "sex": {
        "coding": [
          {
            "system": "http://hl7.org/fhir/administrative-gender",
            "code": "female",
            "display": "Female"
          }
        ]
      },
      "ageAge": {
        "value": 55,
        "unit": "yr",
        "system": "http://unitsofmeasure.org",
        "code": "a"
      }
    },
    {
      "resourceType": "FamilyMemberHistory",
      "id": "6",
      "extension": [
        {
          "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling",
          "extension": [
            {
              "url": "type",
              "valueCodeableConcept": {
                "coding": [
                  {
                    "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                    "code": "NBRO",
                    "display": "natural brother"
                  }
                ],
                "text": "natural brother"
              }
            },
            {
              "url": "reference",
              "valueReference": {
                "reference": "FamilyMemberHistory/father",
                "display": "maternal grandfather"
              }
            }
          ]
        }
      ],
      "status": "completed",
      "patient": {
        "reference": "Patient/example",
        "display": "Pam Taylor"
      },
      "name": "Paul",
      "relationship": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
            "code": "PGRFTH",
            "display": "Paternal grandfather"
          }
        ],
        "text": "Paternal grandfather"
      },
      "ageAge": {
        "value": 74,
        "unit": "yr",
        "system": "http://unitsofmeasure.org",
        "code": "b"
      }
    }
  ],
  "status": "current",
  "mode": "snapshot",
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "80738-8",
        "display": "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal"
      }
    ],
    "text": "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal"
  },
  "subject": {
    "reference": "Patient/example",
    "display": "Pam Taylor"
  },
  "entry": [
    {
      "item": {
        "reference": "#1"
      }
    },
    {
      "item": {
        "reference": "#2"
      }
    },
    {
      "item": {
        "reference": "#3"
      }
    },
    {
      "item": {
        "reference": "#4"
      }
    },
    {
      "item": {
        "reference": "#5"
      }
    },
    {
      "item": {
        "reference": "#6"
      }
    }
  ]
}

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.