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FHIR Infrastructure Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Device, Patient, Practitioner |
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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\"><table><tr><td>Mode: snapshotStatus: currentCode: TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal</td></tr><tr><td>Subject: <a>Pam Taylor. Generated Summary: Medical record number: 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); , Phone: (03) 5555 6473, Phone: (03) 3410 5613, Phone: (03) 5555 8834; gender: male; birthDate: 1974-12-25; </a></td></tr></table><table><tr><td><b>Items</b></td></tr><tr><td><a>#1</a></td></tr><tr><td><a>#2</a></td></tr><tr><td><a>#3</a></td></tr><tr><td><a>#4</a></td></tr><tr><td><a>#5</a></td></tr><tr><td><a>#6</a></td></tr></table></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.