HL7 Czech DIGOVO Implementation Guide
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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) - JSON Representation

Draft as of 2025-11-08

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{
  "resourceType" : "ConceptMap",
  "id" : "LogRareDiseaseDiagnosisCz2DIGOVO",
  "text" : {
    "status" : "generated",
    "div" : "<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>"
  },
  "url" : "https://hl7.cz/fhir/digovo/ConceptMap/LogRareDiseaseDiagnosisCz2DIGOVO",
  "version" : "0.0.1",
  "name" : "LogRareDiseaseDiagnosisCz2DIGOVO",
  "title" : "LogCzRareDiseaseDiagnosis → CZ_ConditionRareDisease + CZ_Observation_* (DIGOVO)",
  "status" : "draft",
  "experimental" : true,
  "date" : "2025-11-08T23:36:31+00:00",
  "publisher" : "HL7 Czech Republic",
  "contact" : [
    {
      "name" : "HL7 Czech Republic",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.hl7.cz/"
        }
      ]
    }
  ],
  "description" : "DIGOVO FHIR mapování na profily profily: CZ_ConditionRareDisease, CZ_Observation_Genotype,\nCZ_Observation_Phenotype, CZ_Observation_BiologicalMethod, CZ_Observation_GeneticTest,\nCZ_Observation_UndiagnosedFinding.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "CZ",
          "display" : "Czechia"
        }
      ]
    }
  ],
  "group" : [
    {
      "source" : "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz",
      "target" : "https://hl7.cz/fhir/digovo/StructureDefinition/cz-condition-raredisease",
      "element" : [
        {
          "code" : "diagnozaVzacnehoOnemocneni.nazev",
          "display" : "Název onemocnění (orpha)",
          "target" : [
            {
              "code" : "Condition.code",
              "display" : "Condition.code (orpha)",
              "equivalence" : "equal"
            }
          ]
        },
        {
          "code" : "diagnozaVzacnehoOnemocneni.aktualniStav",
          "display" : "Aktuální stav diagnózy",
          "target" : [
            {
              "code" : "Condition.clinicalStatus",
              "display" : "Condition.clinicalStatus",
              "equivalence" : "relatedto"
            }
          ]
        },
        {
          "code" : "diagnozaVzacnehoOnemocneni.metodaPotvrzeni",
          "display" : "Metoda potvrzení diagnózy",
          "target" : [
            {
              "code" : "Condition.verificationStatus",
              "display" : "Condition.verificationStatus",
              "equivalence" : "narrower"
            }
          ]
        },
        {
          "code" : "diagnozaVzacnehoOnemocneni.typOnemocneni",
          "display" : "Typ onemocnění (sporadické/familiární)",
          "target" : [
            {
              "code" : "Condition.extension:typOnemocneni",
              "display" : "Condition.extension (typOnemocneni)",
              "equivalence" : "relatedto"
            }
          ]
        }
      ]
    },
    {
      "source" : "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz",
      "target" : "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genotype",
      "element" : [
        {
          "code" : "diagnozaVzacnehoOnemocneni.gen",
          "display" : "Gen (HGNC)",
          "target" : [
            {
              "code" : "Observation.valueCodeableConcept",
              "display" : "Observation.value – Gen (HGNC)",
              "equivalence" : "equal"
            }
          ]
        },
        {
          "code" : "diagnozaVzacnehoOnemocneni.genovaVarianta",
          "display" : "Genová varianta (HGVS)",
          "target" : [
            {
              "code" : "Observation.valueCodeableConcept",
              "display" : "Observation.value – Genová varianta (HGVS)",
              "equivalence" : "equal"
            }
          ]
        }
      ]
    },
    {
      "source" : "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz",
      "target" : "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-phenotype",
      "element" : [
        {
          "code" : "diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp",
          "display" : "Fenotypické projevy (HPO)",
          "target" : [
            {
              "code" : "Observation.valueCodeableConcept",
              "display" : "Observation.value – Fenotyp (HPO)",
              "equivalence" : "equal"
            }
          ]
        }
      ]
    },
    {
      "source" : "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz",
      "target" : "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-biologicalmethod",
      "element" : [
        {
          "code" : "diagnozaVzacnehoOnemocneni.biologickaMetoda",
          "display" : "Biologická metoda použitá v diagnostice",
          "target" : [
            {
              "code" : "Observation.valueCodeableConcept",
              "display" : "Observation.value – Biologická metoda",
              "equivalence" : "equal"
            }
          ]
        }
      ]
    },
    {
      "source" : "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz",
      "target" : "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-genetictest",
      "element" : [
        {
          "code" : "diagnozaVzacnehoOnemocneni.metodaPotvrzeni",
          "display" : "Metoda potvrzení (genetická/biochemická/clinical)",
          "target" : [
            {
              "code" : "Observation.valueCodeableConcept",
              "display" : "Observation.value – Typ testu / metoda",
              "equivalence" : "relatedto"
            }
          ]
        }
      ]
    },
    {
      "source" : "https://hl7.cz/fhir/digovo/StructureDefinition/LogRareDiseaseDiagnosisCz",
      "target" : "https://hl7.cz/fhir/digovo/StructureDefinition/cz-observation-undiagnosed",
      "element" : [
        {
          "code" : "diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp",
          "display" : "Nediagnostikovaný fenotyp (HPO)",
          "target" : [
            {
              "code" : "Observation.valueCodeableConcept",
              "display" : "Observation.value – Nediagnostikovaný fenotyp",
              "equivalence" : "equal"
            }
          ]
        },
        {
          "code" : "diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp",
          "display" : "Nediagnostikovaný genotyp (HGVS)",
          "target" : [
            {
              "code" : "Observation.valueCodeableConcept",
              "display" : "Observation.value – Nediagnostikovaný genotyp",
              "equivalence" : "equal"
            }
          ]
        },
        {
          "code" : "diagnozaVzacnehoOnemocneni.zavaznost",
          "display" : "Závažnost onemocnění",
          "target" : [
            {
              "code" : "Condition.severity",
              "display" : "Condition.severity",
              "equivalence" : "equal"
            }
          ]
        }
      ],
      "unmapped" : {
        "mode" : "other-map",
        "url" : "https://hl7.cz/fhir/digovo/ConceptMap/unmapped-handling"
      }
    }
  ]
}