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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
@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-draft-final generated on Wed, Mar 1, 2023 23:06+1100.
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