Release 5

Publish-box (todo)

Example GenomicStudy/groupDenovoFamily (Turtle)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

Raw Turtle (+ also see Turtle/RDF Format Specification)

Group - A group of a trio study including proband, mother, and father

@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

[a fhir:Group ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "groupDenovoFamily"] ; # 
  fhir:text [
     fhir:status [ fhir:v "additional" ] ;
     fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n      <p> Denovo mutation study members </p> \n      <ul> \n        <li> Patient: Child Junior Doe</li> \n        <li> Mother: Jane Mother Doe</li> \n        <li> Father: John Father Doe</li> \n      </ul> \n    </div>"
  ] ; # 
  fhir:identifier ( [
     fhir:use [ fhir:v "temp" ] ;
     fhir:type [
       fhir:coding ( [
         fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0203"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "MR" ] ;
         fhir:display [ fhir:v "Medical record number" ]
       ] )
     ] ;
     fhir:system [ fhir:v "http://www.somesystemabc.net/identifiers/groups"^^xsd:anyURI ] ;
     fhir:value [ fhir:v "11111" ] ;
     fhir:period [
       fhir:start [ fhir:v "2021-01-01"^^xsd:date ]
     ] ;
     fhir:assigner [
       fhir:display [ fhir:v "Child Hospital" ]
     ]
  ] ) ; # 
  fhir:active [ fhir:v "true"^^xsd:boolean] ; # 
  fhir:type [ fhir:v "person"] ; # 
  fhir:membership [ fhir:v "enumerated"] ; # 
  fhir:name [ fhir:v "Denovo Mutation Example Group"] ; #   1..1 definitional | enumerated  ,   <code></code>  
  fhir:description [ fhir:v "[markdown]"] ; #   0..1 Label for Group  
  fhir:quantity [ fhir:v "3"^^xsd:nonNegativeInteger] ; #   0..1 Natural language description of the group  
  fhir:managingEntity [
     fhir:reference [ fhir:v "Practitioner/practitioner02" ]
  ] ; # 
  fhir:member ( [
     fhir:entity [
       fhir:reference [ fhir:v "Patient/proband" ]
     ] ;
     fhir:period [
       fhir:start [ fhir:v "2021-01-01T01:01:10-06:00"^^xsd:dateTime ]
     ] ;
     fhir:inactive [ fhir:v "false"^^xsd:boolean ]
  ] [
     fhir:entity [
       fhir:reference [ fhir:v "RelatedPerson/relatedPersonDenovoMother" ]
     ] ;
     fhir:period [
       fhir:start [ fhir:v "2021-01-01T01:01:10-06:00"^^xsd:dateTime ]
     ] ;
     fhir:inactive [ fhir:v "false"^^xsd:boolean ]
  ] [
     fhir:entity [
       fhir:reference [ fhir:v "RelatedPerson/relatedPersonDenovoFather" ]
     ] ;
     fhir:period [
       fhir:start [ fhir:v "2021-01-01T01:01:10-06:00"^^xsd:dateTime ]
     ] ;
     fhir:inactive [ fhir:v "false"^^xsd:boolean ]
  ] )] . # 

# -------------------------------------------------------------------------------------


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.