LogCzRareDiseaseDiagnosis → CZ_ConditionRareDisease + CZ_Observation_* (DIGOVO) - TTL Representation - HL7 Czech DIGOVO Implementation Guide v0.0.1

HL7 Czech DIGOVO Implementation Guide, published by HL7 Czech Republic. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7-cz/DIGOVO/ and changes regularly. See the Directory of published versions
: LogCzRareDiseaseDiagnosis → CZ_ConditionRareDisease + CZ_Observation_* (DIGOVO) - TTL Representation

Draft as of 2025-11-08
Raw ttl | Download

@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

 a fhir:ConceptMap ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz2DIGOVO"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ConceptMap LogRareDiseaseDiagnosisCz2DIGOVO</b></p><a name=\"LogRareDiseaseDiagnosisCz2DIGOVO\"> </a><a name=\"hcLogRareDiseaseDiagnosisCz2DIGOVO\"> </a><p>Mapping from (not specified) to (not specified)</p><br/><p><b>Group 1 </b>Mapping from <code>https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz</code> to <code>https://hl7.cz/fhir/digovo/StructureDefinition/cz-condition-raredisease</code></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>diagnozaVzacnehoOnemocneni.nazev (Název onemocnění (orpha))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Condition.code (Condition.code (orpha))</td></tr><tr><td>diagnozaVzacnehoOnemocneni.aktualniStav (Aktuální stav diagnózy)</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.clinicalStatus</td></tr><tr><td>diagnozaVzacnehoOnemocneni.metodaPotvrzeni (Metoda potvrzení diagnózy)</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#narrower\" title=\"narrower\">narrower</a></td><td>Condition.verificationStatus</td></tr><tr><td>diagnozaVzacnehoOnemocneni.typOnemocneni (Typ onemocnění (sporadické/familiární))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Condition.extension:typOnemocneni (Condition.extension (typOnemocneni))</td></tr></table><hr/><p><b>Group 2 </b>Mapping from <code>https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz</code> to <code>https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genotype</code></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>diagnozaVzacnehoOnemocneni.gen (Gen (HGNC))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Observation.valueCodeableConcept (Observation.value – Gen (HGNC))</td></tr><tr><td>diagnozaVzacnehoOnemocneni.genovaVarianta (Genová varianta (HGVS))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Observation.valueCodeableConcept (Observation.value – Genová varianta (HGVS))</td></tr></table><hr/><p><b>Group 3 </b>Mapping from <code>https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz</code> to <code>https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-phenotype</code></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp (Fenotypické projevy (HPO))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Observation.valueCodeableConcept (Observation.value – Fenotyp (HPO))</td></tr></table><hr/><p><b>Group 4 </b>Mapping from <code>https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz</code> to <code>https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-biologicalmethod</code></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>diagnozaVzacnehoOnemocneni.biologickaMetoda (Biologická metoda použitá v diagnostice)</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Observation.valueCodeableConcept (Observation.value – Biologická metoda)</td></tr></table><hr/><p><b>Group 5 </b>Mapping from <code>https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz</code> to <code>https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genetictest</code></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>diagnozaVzacnehoOnemocneni.metodaPotvrzeni (Metoda potvrzení (genetická/biochemická/clinical))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#relatedto\" title=\"relatedto\">is related to</a></td><td>Observation.valueCodeableConcept (Observation.value – Typ testu / metoda)</td></tr></table><hr/><p><b>Group 6 </b>Mapping from <code>https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz</code> to <code>https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-undiagnosed</code></p><table class=\"grid\"><tr><td><b>Source Code</b></td><td><b>Relationship</b></td><td><b>Target Code</b></td></tr><tr><td>diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp (Nediagnostikovaný fenotyp (HPO))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Observation.valueCodeableConcept (Observation.value – Nediagnostikovaný fenotyp)</td></tr><tr><td>diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp (Nediagnostikovaný genotyp (HGVS))</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Observation.valueCodeableConcept (Observation.value – Nediagnostikovaný genotyp)</td></tr><tr><td>diagnozaVzacnehoOnemocneni.zavaznost (Závažnost onemocnění)</td><td><a href=\"http://hl7.org/fhir/R5/codesystem-concept-map-relationship.html#equal\" title=\"equal\">is equal to</a></td><td>Condition.severity</td></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "https://hl7.cz/fhir/digovo/ConceptMap/LogRareDiseaseDiagnosisCz2DIGOVO"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/ConceptMap/LogRareDiseaseDiagnosisCz2DIGOVO>
  ] ; # 
  fhir:version [ fhir:v "0.0.1"] ; # 
  fhir:name [ fhir:v "LogRareDiseaseDiagnosisCz2DIGOVO"] ; # 
  fhir:title [ fhir:v "LogCzRareDiseaseDiagnosis → CZ_ConditionRareDisease + CZ_Observation_* (DIGOVO)"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:experimental [ fhir:v true] ; # 
  fhir:date [ fhir:v "2025-11-08T23:36:31+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 Czech Republic"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 Czech Republic" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.hl7.cz/" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "DIGOVO FHIR mapování na profily profily: CZ_ConditionRareDisease, CZ_Observation_Genotype,\nCZ_Observation_Phenotype, CZ_Observation_BiologicalMethod, CZ_Observation_GeneticTest,\nCZ_Observation_UndiagnosedFinding."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [
fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ;
fhir:l <urn:iso:std:iso:3166>       ] ;
fhir:code [ fhir:v "CZ" ] ;
fhir:display [ fhir:v "Czechia" ]     ] )
  ] ) ; # 
  fhir:group ( [
fhir:source [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz>     ] ;
fhir:target [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/cz-condition-raredisease"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/cz-condition-raredisease>     ] ;
    ( fhir:element [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.nazev" ] ;
fhir:display [ fhir:v "Název onemocnění (orpha)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.code" ] ;
fhir:display [ fhir:v "Condition.code (orpha)" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.aktualniStav" ] ;
fhir:display [ fhir:v "Aktuální stav diagnózy" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.clinicalStatus" ] ;
fhir:display [ fhir:v "Condition.clinicalStatus" ] ;
fhir:equivalence [ fhir:v "relatedto" ]       ] )     ] [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.metodaPotvrzeni" ] ;
fhir:display [ fhir:v "Metoda potvrzení diagnózy" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.verificationStatus" ] ;
fhir:display [ fhir:v "Condition.verificationStatus" ] ;
fhir:equivalence [ fhir:v "narrower" ]       ] )     ] [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.typOnemocneni" ] ;
fhir:display [ fhir:v "Typ onemocnění (sporadické/familiární)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.extension:typOnemocneni" ] ;
fhir:display [ fhir:v "Condition.extension (typOnemocneni)" ] ;
fhir:equivalence [ fhir:v "relatedto" ]       ] )     ] )
  ] [
fhir:source [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz>     ] ;
fhir:target [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genotype"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genotype>     ] ;
    ( fhir:element [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.gen" ] ;
fhir:display [ fhir:v "Gen (HGNC)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Observation.valueCodeableConcept" ] ;
fhir:display [ fhir:v "Observation.value – Gen (HGNC)" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.genovaVarianta" ] ;
fhir:display [ fhir:v "Genová varianta (HGVS)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Observation.valueCodeableConcept" ] ;
fhir:display [ fhir:v "Observation.value – Genová varianta (HGVS)" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] )
  ] [
fhir:source [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz>     ] ;
fhir:target [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-phenotype"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-phenotype>     ] ;
    ( fhir:element [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp" ] ;
fhir:display [ fhir:v "Fenotypické projevy (HPO)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Observation.valueCodeableConcept" ] ;
fhir:display [ fhir:v "Observation.value – Fenotyp (HPO)" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] )
  ] [
fhir:source [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz>     ] ;
fhir:target [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-biologicalmethod"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-biologicalmethod>     ] ;
    ( fhir:element [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.biologickaMetoda" ] ;
fhir:display [ fhir:v "Biologická metoda použitá v diagnostice" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Observation.valueCodeableConcept" ] ;
fhir:display [ fhir:v "Observation.value – Biologická metoda" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] )
  ] [
fhir:source [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz>     ] ;
fhir:target [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genetictest"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genetictest>     ] ;
    ( fhir:element [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.metodaPotvrzeni" ] ;
fhir:display [ fhir:v "Metoda potvrzení (genetická/biochemická/clinical)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Observation.valueCodeableConcept" ] ;
fhir:display [ fhir:v "Observation.value – Typ testu / metoda" ] ;
fhir:equivalence [ fhir:v "relatedto" ]       ] )     ] )
  ] [
fhir:source [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz>     ] ;
fhir:target [
fhir:v "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-undiagnosed"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-undiagnosed>     ] ;
    ( fhir:element [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp" ] ;
fhir:display [ fhir:v "Nediagnostikovaný fenotyp (HPO)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Observation.valueCodeableConcept" ] ;
fhir:display [ fhir:v "Observation.value – Nediagnostikovaný fenotyp" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp" ] ;
fhir:display [ fhir:v "Nediagnostikovaný genotyp (HGVS)" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Observation.valueCodeableConcept" ] ;
fhir:display [ fhir:v "Observation.value – Nediagnostikovaný genotyp" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] [
fhir:code [ fhir:v "diagnozaVzacnehoOnemocneni.zavaznost" ] ;
fhir:display [ fhir:v "Závažnost onemocnění" ] ;
      ( fhir:target [
fhir:code [ fhir:v "Condition.severity" ] ;
fhir:display [ fhir:v "Condition.severity" ] ;
fhir:equivalence [ fhir:v "equal" ]       ] )     ] ) ;
fhir:unmapped [
fhir:mode [ fhir:v "other-map" ] ;
fhir:url [
fhir:v "https://hl7.cz/fhir/digovo/ConceptMap/unmapped-handling"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/digovo/ConceptMap/unmapped-handling>       ]     ]
  ] ) . #