This page is part of the FHIR Specification (v5.0.0-snapshot1: Release 5 Snapshot #1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions
. Page versions: R5 R4B R4 R3
| 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
@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
<http://hl7.org/fhir/List/example-double-cousin-relationship> a fhir:List;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "example-double-cousin-relationship"];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.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>Patient/example: Pam Taylor</a> "Peter CHALMERS"</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>"
];
fhir:DomainResource.contained [
a fhir:FamilyMemberHistory;
fhir:index 0;
fhir:Resource.id [ fhir:value "1" ];
fhir:FamilyMemberHistory.status [ fhir:value "completed" ];
fhir:FamilyMemberHistory.patient [
fhir:link <http://hl7.org/fhir/Patient/example>;
fhir:Reference.reference [ fhir:value "Patient/example" ];
fhir:Reference.display [ fhir:value "Pam Taylor" ]
];
fhir:FamilyMemberHistory.name [ fhir:value "Mary" ];
fhir:FamilyMemberHistory.relationship [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "NMTH" ];
fhir:Coding.display [ fhir:value "natural mother" ]
];
fhir:CodeableConcept.text [ fhir:value "natural mother" ]
];
fhir:FamilyMemberHistory.deceasedBoolean [ fhir:value "true"^^xsd:boolean ];
fhir:FamilyMemberHistory.condition [
fhir:index 0;
fhir:FamilyMemberHistory.condition.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a sct:73211009;
fhir:Coding.system [ fhir:value "http://snomed.info/sct" ];
fhir:Coding.code [ fhir:value "73211009" ];
fhir:Coding.display [ fhir:value "Diabetes mellitus" ]
];
fhir:CodeableConcept.text [ fhir:value "Diabetes mellitus" ]
];
fhir:FamilyMemberHistory.condition.onsetAge [
fhir:Quantity.value [ fhir:value "45"^^xsd:decimal ];
fhir:Quantity.unit [ fhir:value "yr" ];
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
fhir:Quantity.code [ fhir:value "a" ]
]
]
], [
a fhir:FamilyMemberHistory;
fhir:index 1;
fhir:Resource.id [ fhir:value "2" ];
fhir:FamilyMemberHistory.status [ fhir:value "completed" ];
fhir:FamilyMemberHistory.patient [
fhir:link <http://hl7.org/fhir/Patient/example>;
fhir:Reference.reference [ fhir:value "Patient/example" ];
fhir:Reference.display [ fhir:value "Pam Taylor" ]
];
fhir:FamilyMemberHistory.name [ fhir:value "Bob" ];
fhir:FamilyMemberHistory.relationship [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "PUNCLE" ];
fhir:Coding.display [ fhir:value "paternal uncle" ]
];
fhir:CodeableConcept.text [ fhir:value "paternal uncle" ]
];
fhir:FamilyMemberHistory.condition [
fhir:index 0;
fhir:FamilyMemberHistory.condition.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a sct:1481000119100;
fhir:Coding.system [ fhir:value "http://snomed.info/sct" ];
fhir:Coding.code [ fhir:value "1481000119100" ];
fhir:Coding.display [ fhir:value "Diabetes mellitus type 2 without retinopathy" ]
];
fhir:CodeableConcept.text [ fhir:value "Diabetes mellitus type 2 without retinopathy" ]
];
fhir:FamilyMemberHistory.condition.onsetAge [
fhir:Quantity.value [ fhir:value "35"^^xsd:decimal ];
fhir:Quantity.unit [ fhir:value "yr" ];
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
fhir:Quantity.code [ fhir:value "a" ]
]
]
], [
a fhir:FamilyMemberHistory;
fhir:index 2;
fhir:Resource.id [ fhir:value "3" ];
fhir:FamilyMemberHistory.status [ fhir:value "completed" ];
fhir:FamilyMemberHistory.patient [
fhir:link <http://hl7.org/fhir/Patient/example>;
fhir:Reference.reference [ fhir:value "Patient/example" ];
fhir:Reference.display [ fhir:value "Pam Taylor" ]
];
fhir:FamilyMemberHistory.name [ fhir:value "Jon" ];
fhir:FamilyMemberHistory.relationship [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "MUNCLE" ];
fhir:Coding.display [ fhir:value "maternal uncle" ]
];
fhir:CodeableConcept.text [ fhir:value "maternal uncle" ]
]
], [
a fhir:FamilyMemberHistory;
fhir:index 3;
fhir:Resource.id [ fhir:value "4" ];
fhir:DomainResource.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling" ];
fhir:Element.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "type" ];
fhir:Extension.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "NSIS" ];
fhir:Coding.display [ fhir:value "natural sister" ]
];
fhir:CodeableConcept.text [ fhir:value "natural sister" ]
]
], [
fhir:index 1;
fhir:Extension.url [ fhir:value "reference" ];
fhir:Extension.valueReference [
fhir:link <http://hl7.org/fhir/FamilyMemberHistory/mother>;
fhir:Reference.reference [ fhir:value "FamilyMemberHistory/mother" ];
fhir:Reference.display [ fhir:value "paternal grandmother" ]
]
]
];
fhir:FamilyMemberHistory.status [ fhir:value "completed" ];
fhir:FamilyMemberHistory.patient [
fhir:link <http://hl7.org/fhir/Patient/example>;
fhir:Reference.reference [ fhir:value "Patient/example" ];
fhir:Reference.display [ fhir:value "Pam Taylor" ]
];
fhir:FamilyMemberHistory.name [ fhir:value "Alica" ];
fhir:FamilyMemberHistory.relationship [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "MGRMTH" ];
fhir:Coding.display [ fhir:value "maternal grandmother" ]
];
fhir:CodeableConcept.text [ fhir:value "maternal grandmother" ]
];
fhir:FamilyMemberHistory.ageAge [
fhir:Quantity.value [ fhir:value "70"^^xsd:decimal ];
fhir:Quantity.unit [ fhir:value "yr" ];
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
fhir:Quantity.code [ fhir:value "a" ]
]
], [
a fhir:FamilyMemberHistory;
fhir:index 4;
fhir:Resource.id [ fhir:value "5" ];
fhir:DomainResource.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent" ];
fhir:Element.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "type" ];
fhir:Extension.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "MTH" ];
fhir:Coding.display [ fhir:value "mother" ]
];
fhir:CodeableConcept.text [ fhir:value "mother" ]
]
], [
fhir:index 1;
fhir:Extension.url [ fhir:value "reference" ];
fhir:Extension.valueReference [
fhir:link <http://hl7.org/fhir/FamilyMemberHistory/147146>;
fhir:Reference.reference [ fhir:value "FamilyMemberHistory/147146" ];
fhir:Reference.display [ fhir:value "maternal grandmother" ]
]
]
];
fhir:FamilyMemberHistory.status [ fhir:value "completed" ];
fhir:FamilyMemberHistory.patient [
fhir:link <http://hl7.org/fhir/Patient/example>;
fhir:Reference.reference [ fhir:value "Patient/example" ];
fhir:Reference.display [ fhir:value "Pam Taylor" ]
];
fhir:FamilyMemberHistory.name [ fhir:value "Aunt with Parent ID" ];
fhir:FamilyMemberHistory.relationship [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "MAUNT" ];
fhir:Coding.display [ fhir:value "maternal aunt" ]
];
fhir:CodeableConcept.text [ fhir:value "maternal aunt" ]
];
fhir:FamilyMemberHistory.sex [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://hl7.org/fhir/administrative-gender" ];
fhir:Coding.code [ fhir:value "female" ];
fhir:Coding.display [ fhir:value "Female" ]
]
];
fhir:FamilyMemberHistory.ageAge [
fhir:Quantity.value [ fhir:value "55"^^xsd:decimal ];
fhir:Quantity.unit [ fhir:value "yr" ];
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
fhir:Quantity.code [ fhir:value "a" ]
]
], [
a fhir:FamilyMemberHistory;
fhir:index 5;
fhir:Resource.id [ fhir:value "6" ];
fhir:DomainResource.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling" ];
fhir:Element.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "type" ];
fhir:Extension.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "NBRO" ];
fhir:Coding.display [ fhir:value "natural brother" ]
];
fhir:CodeableConcept.text [ fhir:value "natural brother" ]
]
], [
fhir:index 1;
fhir:Extension.url [ fhir:value "reference" ];
fhir:Extension.valueReference [
fhir:link <http://hl7.org/fhir/FamilyMemberHistory/father>;
fhir:Reference.reference [ fhir:value "FamilyMemberHistory/father" ];
fhir:Reference.display [ fhir:value "maternal grandfather" ]
]
]
];
fhir:FamilyMemberHistory.status [ fhir:value "completed" ];
fhir:FamilyMemberHistory.patient [
fhir:link <http://hl7.org/fhir/Patient/example>;
fhir:Reference.reference [ fhir:value "Patient/example" ];
fhir:Reference.display [ fhir:value "Pam Taylor" ]
];
fhir:FamilyMemberHistory.name [ fhir:value "Paul" ];
fhir:FamilyMemberHistory.relationship [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v3-RoleCode" ];
fhir:Coding.code [ fhir:value "PGRFTH" ];
fhir:Coding.display [ fhir:value "Paternal grandfather" ]
];
fhir:CodeableConcept.text [ fhir:value "Paternal grandfather" ]
];
fhir:FamilyMemberHistory.ageAge [
fhir:Quantity.value [ fhir:value "74"^^xsd:decimal ];
fhir:Quantity.unit [ fhir:value "yr" ];
fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ];
fhir:Quantity.code [ fhir:value "b" ]
]
];
fhir:List.status [ fhir:value "current"];
fhir:List.mode [ fhir:value "snapshot"];
fhir:List.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:80738-8;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "80738-8" ];
fhir:Coding.display [ fhir:value "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal" ]
];
fhir:CodeableConcept.text [ fhir:value "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal" ]
];
fhir:List.subject [
fhir:link <http://hl7.org/fhir/Patient/example>;
fhir:Reference.reference [ fhir:value "Patient/example" ];
fhir:Reference.display [ fhir:value "Pam Taylor" ]
];
fhir:List.entry [
fhir:index 0;
fhir:List.entry.item [
fhir:Reference.reference [ fhir:value "#1" ]
]
], [
fhir:index 1;
fhir:List.entry.item [
fhir:Reference.reference [ fhir:value "#2" ]
]
], [
fhir:index 2;
fhir:List.entry.item [
fhir:Reference.reference [ fhir:value "#3" ]
]
], [
fhir:index 3;
fhir:List.entry.item [
fhir:Reference.reference [ fhir:value "#4" ]
]
], [
fhir:index 4;
fhir:List.entry.item [
fhir:Reference.reference [ fhir:value "#5" ]
]
], [
fhir:index 5;
fhir:List.entry.item [
fhir:Reference.reference [ fhir:value "#6" ]
]
] .
<http://hl7.org/fhir/Patient/example> a fhir:Patient .
<http://hl7.org/fhir/FamilyMemberHistory/mother> a fhir:FamilyMemberHistory .
<http://hl7.org/fhir/FamilyMemberHistory/147146> a fhir:FamilyMemberHistory .
<http://hl7.org/fhir/FamilyMemberHistory/father> a fhir:FamilyMemberHistory .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/List/example-double-cousin-relationship.ttl> a owl:Ontology;
owl:imports fhir:fhir.ttl;
owl:versionIRI <http://build.fhir.org/List/example-double-cousin-relationship.ttl> .
# -------------------------------------------------------------------------------------
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.