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. 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: <https://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 -------------------------------------------------------------------
[a fhir:List ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "example-double-cousin-relationship"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir: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>"
] ; #
fhir:contained ( [
a fhir:FamilyMemberHistory ;
fhir:id [ fhir:v "1" ] ;
fhir:status [ fhir:v "completed" ] ;
fhir:patient [
fhir:reference [ fhir:v "Patient/example" ] ;
fhir:display [ fhir:v "Pam Taylor" ]
] ;
fhir:name [ fhir:v "Mary" ] ;
fhir:relationship [
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NMTH" ] ;
fhir:display [ fhir:v "natural mother" ]
] ) ;
fhir:text [ fhir:v "natural mother" ]
] ;
fhir:deceased [ fhir:v "true"^^xsd:boolean ] ;
fhir:condition ( [
fhir:code [
fhir:coding ( [
a sct:73211009 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "73211009" ] ;
fhir:display [ fhir:v "Diabetes mellitus" ]
] ) ;
fhir:text [ fhir:v "Diabetes mellitus" ]
] ;
fhir:onset [
a fhir:Age ;
fhir:value [ fhir:v "45"^^xsd:decimal ] ;
fhir:unit [ fhir:v "yr" ] ;
fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "a" ]
]
] )
] [
a fhir:FamilyMemberHistory ;
fhir:id [ fhir:v "2" ] ;
fhir:status [ fhir:v "completed" ] ;
fhir:patient [
fhir:reference [ fhir:v "Patient/example" ] ;
fhir:display [ fhir:v "Pam Taylor" ]
] ;
fhir:name [ fhir:v "Bob" ] ;
fhir:relationship [
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "PUNCLE" ] ;
fhir:display [ fhir:v "paternal uncle" ]
] ) ;
fhir:text [ fhir:v "paternal uncle" ]
] ;
fhir:condition ( [
fhir:code [
fhir:coding ( [
a sct:1481000119100 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "1481000119100" ] ;
fhir:display [ fhir:v "Diabetes mellitus type 2 without retinopathy" ]
] ) ;
fhir:text [ fhir:v "Diabetes mellitus type 2 without retinopathy" ]
] ;
fhir:onset [
a fhir:Age ;
fhir:value [ fhir:v "35"^^xsd:decimal ] ;
fhir:unit [ fhir:v "yr" ] ;
fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "a" ]
]
] )
] [
a fhir:FamilyMemberHistory ;
fhir:id [ fhir:v "3" ] ;
fhir:status [ fhir:v "completed" ] ;
fhir:patient [
fhir:reference [ fhir:v "Patient/example" ] ;
fhir:display [ fhir:v "Pam Taylor" ]
] ;
fhir:name [ fhir:v "Jon" ] ;
fhir:relationship [
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "MUNCLE" ] ;
fhir:display [ fhir:v "maternal uncle" ]
] ) ;
fhir:text [ fhir:v "maternal uncle" ]
]
] [
a fhir:FamilyMemberHistory ;
fhir:id [ fhir:v "4" ] ;
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling"^^xsd:anyURI ] ;
fhir:extension ( [
fhir:url [ fhir:v "type"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NSIS" ] ;
fhir:display [ fhir:v "natural sister" ]
] ) ;
fhir:text [ fhir:v "natural sister" ]
]
] [
fhir:url [ fhir:v "reference"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "FamilyMemberHistory/mother" ] ; # It is fake.
fhir:display [ fhir:v "paternal grandmother" ]
]
] )
] ) ;
fhir:status [ fhir:v "completed" ] ;
fhir:patient [
fhir:reference [ fhir:v "Patient/example" ] ;
fhir:display [ fhir:v "Pam Taylor" ]
] ;
fhir:name [ fhir:v "Alica" ] ;
fhir:relationship [
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "MGRMTH" ] ;
fhir:display [ fhir:v "maternal grandmother" ]
] ) ;
fhir:text [ fhir:v "maternal grandmother" ]
] ; # This is a new relationship that here is a maternal grandmother who is paternal grandmonther's sibling
fhir:age [
a fhir:Age ;
fhir:value [ fhir:v "70"^^xsd:decimal ] ;
fhir:unit [ fhir:v "yr" ] ;
fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "a" ]
]
] [
a fhir:FamilyMemberHistory ;
fhir:id [ fhir:v "5" ] ;
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent"^^xsd:anyURI ] ;
fhir:extension ( [
fhir:url [ fhir:v "type"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "MTH" ] ;
fhir:display [ fhir:v "mother" ]
] ) ;
fhir:text [ fhir:v "mother" ]
]
] [
fhir:url [ fhir:v "reference"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "FamilyMemberHistory/147146" ] ;
fhir:display [ fhir:v "maternal grandmother" ]
]
] )
] ) ;
fhir:status [ fhir:v "completed" ] ;
fhir:patient [
fhir:reference [ fhir:v "Patient/example" ] ;
fhir:display [ fhir:v "Pam Taylor" ]
] ;
fhir:name [ fhir:v "Aunt with Parent ID" ] ;
fhir:relationship [
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "MAUNT" ] ;
fhir:display [ fhir:v "maternal aunt" ]
] ) ;
fhir:text [ fhir:v "maternal aunt" ]
] ;
fhir:sex [
fhir:coding ( [
fhir:system [ fhir:v "http://hl7.org/fhir/administrative-gender"^^xsd:anyURI ] ;
fhir:code [ fhir:v "female" ] ;
fhir:display [ fhir:v "Female" ]
] )
] ;
fhir:age [
a fhir:Age ;
fhir:value [ fhir:v "55"^^xsd:decimal ] ;
fhir:unit [ fhir:v "yr" ] ;
fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "a" ]
]
] [
a fhir:FamilyMemberHistory ;
fhir:id [ fhir:v "6" ] ;
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling"^^xsd:anyURI ] ;
fhir:extension ( [
fhir:url [ fhir:v "type"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NBRO" ] ;
fhir:display [ fhir:v "natural brother" ]
] ) ;
fhir:text [ fhir:v "natural brother" ]
]
] [
fhir:url [ fhir:v "reference"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "FamilyMemberHistory/father" ] ; # It is fake.
fhir:display [ fhir:v "maternal grandfather" ]
]
] )
] ) ;
fhir:status [ fhir:v "completed" ] ;
fhir:patient [
fhir:reference [ fhir:v "Patient/example" ] ;
fhir:display [ fhir:v "Pam Taylor" ]
] ;
fhir:name [ fhir:v "Paul" ] ;
fhir:relationship [
fhir:coding ( [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ] ;
fhir:code [ fhir:v "PGRFTH" ] ;
fhir:display [ fhir:v "Paternal grandfather" ]
] ) ;
fhir:text [ fhir:v "Paternal grandfather" ]
] ; # This is a new relationship that here is a maternal grandmother who is paternal grandmonther's sibling
fhir:age [
a fhir:Age ;
fhir:value [ fhir:v "74"^^xsd:decimal ] ;
fhir:unit [ fhir:v "yr" ] ;
fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "b" ]
]
] ) ; #
fhir:status [ fhir:v "current"] ; #
fhir:mode [ fhir:v "snapshot"] ; #
fhir:code [
fhir:coding ( [
a loinc:80738-8 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "80738-8" ] ;
fhir:display [ fhir:v "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal" ]
] ) ;
fhir:text [ fhir:v "TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal" ]
] ; #
fhir:subject ( [
fhir:reference [ fhir:v "Patient/example" ] ;
fhir:display [ fhir:v "Pam Taylor" ]
] ) ; #
fhir:entry ( [
fhir:item [
fhir:reference [ fhir:v "#1" ]
]
] [
fhir:item [
fhir:reference [ fhir:v "#2" ]
]
] [
fhir:item [
fhir:reference [ fhir:v "#3" ]
]
] [
fhir:item [
fhir:reference [ fhir:v "#4" ]
]
] [
fhir:item [
fhir:reference [ fhir:v "#5" ]
]
] [
fhir:item [
fhir:reference [ fhir:v "#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.
FHIR ®© HL7.org 2011+. FHIR R5 hl7.fhir.core#5.0.0 generated on Sun, Mar 26, 2023 15:25+1100.
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