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 class=\"clstu\"><tr><td>Mode: snapshotStatus: currentCode: TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal</td></tr><tr><td>Subject: <a href=\"patient-example.html\">Patient/example: Pam Taylor</a> "Peter CHALMERS"</td></tr></table><table class=\"grid\"><tr style=\"backgound-color: #eeeeee\"><td><b>Items</b></td></tr><tr><td>?ngen-16a?</td></tr><tr><td>?ngen-16a?</td></tr><tr><td>?ngen-16a?</td></tr><tr><td>?ngen-16a?</td></tr><tr><td>?ngen-16a?</td></tr><tr><td>?ngen-16a?</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.
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. Page versions: R5 R4B R4 R3
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