Diagnóza vzácného onemocnění (cz) - 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
Logical Model: LogCzRareDiseaseDiagnosis - TTL Profile

Draft as of 2025-11-08
TTL representation of the LogRareDiseaseDiagnosisCz logical model.
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@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:StructureDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz"] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: StructureDefinition LogRareDiseaseDiagnosisCz</b></p><table border=\"0\" cellpadding=\"0\" cellspacing=\"0\" style=\"border: 0px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;\"><tr style=\"border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top\"><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"The logical name of the element\">Name</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Information about the use of the element\">Flags</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Minimum and Maximum # of times the element can appear in the instance\">Card.</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px; width: 100px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Reference to the type of the element\">Type</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Additional information about the element\">Description &amp; Constraints</a><span style=\"float: right\"><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Legend for this format\"><img src=\"data:image/png;base64,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\" alt=\"doco\" style=\"background-color: inherit\"/></a></span></th></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz\" title=\"Záznam diagnózy vzácného onemocnění včetně klasifikace, potvrzovací metody a genetických údajů.\">LogRareDiseaseDiagnosisCz</a><a name=\"LogRareDiseaseDiagnosisCz\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://build.fhir.org/types.html#Base\">Base</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Diagnóza vzácného onemocnění (cz)</td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck01.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni\" title=\"Diagnóza, pro kterou je pacient registrován u zadávajícího pracoviště. Pokud má pacient více vzácných onemocnění, lze na stejná administrativní data navázat více formulářů.\">diagnozaVzacnehoOnemocneni</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..*</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Base</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Diagnóza vzácného onemocnění<br/></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nazev\" title=\"Diagnóza dle orphacode. Může být uvedeno více hodnot, pokud se vztahují k více diagnózám. Included in CDE: Yes.\">nazev</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nazev\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Název onemocnění (diagnózy)<br class=\"binding\"/><span style=\"font-weight:bold\" title=\"null\" class=\"binding\">Binding Description: </span><span title=\"null\" class=\"binding\"> (</span><a href=\"http://hl7.org/fhir/R4/terminologies.html#preferred\" title=\"Instances are encouraged to draw from the specified codes for interoperability purposes but are not required to do so to be considered conformant.\" class=\"binding\">preferred</a><span title=\"null\" class=\"binding\">)</span><span title=\"null\" class=\"binding\">: </span><span title=\"null\" class=\"binding\">Použít kódování dle orphacode</span></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.aktualniStav\" title=\"Stav diagnózy – Ongoing, Likely, Confirmed nebo Unknown.\">aktualniStav</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.aktualniStav\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Aktuální stav diagnózy<br class=\"binding\"/><span style=\"font-weight:bold\" title=\"null\" class=\"binding\">Binding Description: </span><span title=\"null\" class=\"binding\"> (</span><a href=\"http://hl7.org/fhir/R4/terminologies.html#example\" title=\"Instances are not expected or even encouraged to draw from the specified value set.  The value set merely provides examples of the types of concepts intended to be included.\" class=\"binding\">example</a><span title=\"null\" class=\"binding\">)</span><span title=\"null\" class=\"binding\">: </span><span style=\"No description provided\">binding</span><br/><br/></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.metodaPotvrzeni\" title=\"Způsob potvrzení diagnózy: Clinical, Genetic, Biochemical, Biological, Imaging, Functional Exploration, Pathological anatomy, Other. (dotaz na autory: definovat rozdíl mezi 'biochemical' a 'biological').\">metodaPotvrzeni</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.metodaPotvrzeni\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..*</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Metoda potvrzení diagnózy<br/></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.biologickaMetoda\" title=\"Metoda biologické diagnostiky: Chromosomal, APCA, Targeted Sequencing, New Generation Sequencing, Other, N/A.\">biologickaMetoda</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.biologickaMetoda\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..*</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Biologická metoda použitá v diagnostice<br/></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.gen\" title=\"Kód genu dle HGNC. Vyplňuje se pouze u geneticky podmíněného vzácného onemocnění.\">gen</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.gen\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Gen a mutace (pokud lze použít)<br class=\"binding\"/><span style=\"font-weight:bold\" title=\"null\" class=\"binding\">Binding Description: </span><span title=\"null\" class=\"binding\"> (</span><a href=\"http://hl7.org/fhir/R4/terminologies.html#preferred\" title=\"Instances are encouraged to draw from the specified codes for interoperability purposes but are not required to do so to be considered conformant.\" class=\"binding\">preferred</a><span title=\"null\" class=\"binding\">)</span><span title=\"null\" class=\"binding\">: </span><span title=\"null\" class=\"binding\">Použít kódování HGNC</span></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.genovaVarianta\" title=\"Kód genetické varianty dle HGVS. Vyplňuje se pouze u geneticky podmíněného onemocnění.\">genovaVarianta</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.genovaVarianta\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Genová varianta (je-li relevantní)<br class=\"binding\"/><span style=\"font-weight:bold\" title=\"null\" class=\"binding\">Binding Description: </span><span title=\"null\" class=\"binding\"> (</span><a href=\"http://hl7.org/fhir/R4/terminologies.html#preferred\" title=\"Instances are encouraged to draw from the specified codes for interoperability purposes but are not required to do so to be considered conformant.\" class=\"binding\">preferred</a><span title=\"null\" class=\"binding\">)</span><span title=\"null\" class=\"binding\">: </span><span title=\"null\" class=\"binding\">Použít kódování HGVS</span></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.typOnemocneni\" title=\"Označuje, zda je onemocnění sporadické nebo familiární. Možno použít i u onemocnění, kde není gen definován.\">typOnemocneni</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.typOnemocneni\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Sporadické nebo familiární onemocnění</td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck001.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane\" title=\"Používá se, pokud nelze onemocnění klasifikovat konkrétní diagnózou. Termín podle CDE.\">nediagnostikovane</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..*</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#BackboneElement\">BackboneElement</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Nediagnostikované (undiagnosed) onemocnění<br/></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp\" title=\"Fenotypické projevy dle HPO.\">fenotyp</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..*</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Fenotyp<br/></td></tr>#xD;\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0000.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-LogRareDiseaseDiagnosisCz-definitions.html#LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp\" title=\"Genotyp dle HGVS.\">genotyp</a><a name=\"LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp\"> </a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..*</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Genotyp<br/></td></tr>#xD;\n<tr><td colspan=\"5\" class=\"hierarchy\"><br/><a href=\"https://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#table-views\" title=\"Legend for this format\"><img src=\"data:image/png;base64,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\" alt=\"doco\" style=\"background-color: inherit\"/> Documentation for this format</a></td></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "https://hl7.cz/fhir/DIGOVO/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/DIGOVO/StructureDefinition/LogRareDiseaseDiagnosisCz>
  ] ; # 
  fhir:version [ fhir:v "0.0.1"] ; # 
  fhir:name [ fhir:v "LogCzRareDiseaseDiagnosis"] ; # 
  fhir:title [ fhir:v "Diagnóza vzácného onemocnění (cz)"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  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 "Záznam diagnózy vzácného onemocnění včetně klasifikace, potvrzovací metody a genetických údajů."] ; # 
  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:fhirVersion [ fhir:v "4.0.1"] ; # 
  fhir:kind [ fhir:v "logical"] ; # 
  fhir:abstract [ fhir:v false] ; # 
  fhir:type [
fhir:v "https://hl7.cz/fhir/DIGOVO/StructureDefinition/LogRareDiseaseDiagnosisCz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/DIGOVO/StructureDefinition/LogRareDiseaseDiagnosisCz>
  ] ; # 
  fhir:baseDefinition [
fhir:v "http://hl7.org/fhir/StructureDefinition/Base"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/Base>
  ] ; # 
  fhir:derivation [ fhir:v "specialization"] ; # 
  fhir:snapshot [
    ( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version>       ] ;
fhir:value [
a fhir:String ;
fhir:v "4.0.1"       ]     ] ) ;
    ( fhir:element [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz" ] ;
fhir:short [ fhir:v "Diagnóza vzácného onemocnění (cz)" ] ;
fhir:definition [ fhir:v "Záznam diagnózy vzácného onemocnění včetně klasifikace, potvrzovací metody a genetických údajů." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "Base" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
fhir:isModifier [ fhir:v false ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni" ] ;
fhir:short [ fhir:v "Diagnóza vzácného onemocnění" ] ;
fhir:definition [ fhir:v "Diagnóza, pro kterou je pacient registrován u zadávajícího pracoviště. Pokud má pacient více vzácných onemocnění, lze na stejná administrativní data navázat více formulářů." ] ;
fhir:min [ fhir:v "1"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni" ] ;
fhir:min [ fhir:v "1"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "Base"^^xsd:anyURI ;
fhir:l fhir:Base         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nazev" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nazev" ] ;
fhir:short [ fhir:v "Název onemocnění (diagnózy)" ] ;
fhir:definition [ fhir:v "Diagnóza dle orphacode. Může být uvedeno více hodnot, pokud se vztahují k více diagnózám. Included in CDE: Yes." ] ;
fhir:min [ fhir:v "1"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nazev" ] ;
fhir:min [ fhir:v "1"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "preferred" ] ;
fhir:description [ fhir:v "Použít kódování dle orphacode" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.aktualniStav" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.aktualniStav" ] ;
fhir:short [ fhir:v "Aktuální stav diagnózy" ] ;
fhir:definition [ fhir:v "Stav diagnózy – Ongoing, Likely, Confirmed nebo Unknown." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.aktualniStav" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "example" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.metodaPotvrzeni" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.metodaPotvrzeni" ] ;
fhir:short [ fhir:v "Metoda potvrzení diagnózy" ] ;
fhir:definition [ fhir:v "Způsob potvrzení diagnózy: Clinical, Genetic, Biochemical, Biological, Imaging, Functional Exploration, Pathological anatomy, Other. (dotaz na autory: definovat rozdíl mezi 'biochemical' a 'biological')." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.metodaPotvrzeni" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.biologickaMetoda" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.biologickaMetoda" ] ;
fhir:short [ fhir:v "Biologická metoda použitá v diagnostice" ] ;
fhir:definition [ fhir:v "Metoda biologické diagnostiky: Chromosomal, APCA, Targeted Sequencing, New Generation Sequencing, Other, N/A." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.biologickaMetoda" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.gen" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.gen" ] ;
fhir:short [ fhir:v "Gen a mutace (pokud lze použít)" ] ;
fhir:definition [ fhir:v "Kód genu dle HGNC. Vyplňuje se pouze u geneticky podmíněného vzácného onemocnění." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.gen" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "preferred" ] ;
fhir:description [ fhir:v "Použít kódování HGNC" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.genovaVarianta" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.genovaVarianta" ] ;
fhir:short [ fhir:v "Genová varianta (je-li relevantní)" ] ;
fhir:definition [ fhir:v "Kód genetické varianty dle HGVS. Vyplňuje se pouze u geneticky podmíněného onemocnění." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.genovaVarianta" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "preferred" ] ;
fhir:description [ fhir:v "Použít kódování HGVS" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.typOnemocneni" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.typOnemocneni" ] ;
fhir:short [ fhir:v "Sporadické nebo familiární onemocnění" ] ;
fhir:definition [ fhir:v "Označuje, zda je onemocnění sporadické nebo familiární. Možno použít i u onemocnění, kde není gen definován." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.typOnemocneni" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane" ] ;
fhir:short [ fhir:v "Nediagnostikované (undiagnosed) onemocnění" ] ;
fhir:definition [ fhir:v "Používá se, pokud nelze onemocnění klasifikovat konkrétní diagnózou. Termín podle CDE." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "BackboneElement"^^xsd:anyURI ;
fhir:l fhir:BackboneElement         ]       ] ) ;
      ( fhir:constraint [
fhir:key [ fhir:v "ele-1" ] ;
fhir:severity [ fhir:v "error" ] ;
fhir:human [ fhir:v "All FHIR elements must have a @value or children" ] ;
fhir:expression [ fhir:v "hasValue() or (children().count() > id.count())" ] ;
fhir:xpath [ fhir:v "@value|f:*|h:div" ] ;
fhir:source [
fhir:v "http://hl7.org/fhir/StructureDefinition/Element"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/Element>         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.id" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.id" ] ;
      ( fhir:representation [ fhir:v "xmlAttr" ] ) ;
fhir:short [ fhir:v "Unique id for inter-element referencing" ] ;
fhir:definition [ fhir:v "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
fhir:base [
fhir:path [ fhir:v "Element.id" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ]       ] ;
      ( fhir:type [
        ( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type>           ] ;
fhir:value [
a fhir:Url ;
fhir:v "string"^^xsd:anyURI ;
fhir:l fhir:string           ]         ] ) ;
fhir:code [
fhir:v "http://hl7.org/fhirpath/System.String"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhirpath/System.String>         ]       ] ) ;
fhir:isModifier [ fhir:v false ] ;
fhir:isSummary [ fhir:v false ] ;
      ( fhir:mapping [
fhir:identity [ fhir:v "rim" ] ;
fhir:map [ fhir:v "n/a" ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.extension" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.extension" ] ;
fhir:slicing [
        ( fhir:discriminator [
fhir:type [ fhir:v "value" ] ;
fhir:path [ fhir:v "url" ]         ] ) ;
fhir:description [ fhir:v "Extensions are always sliced by (at least) url" ] ;
fhir:rules [ fhir:v "open" ]       ] ;
fhir:short [ fhir:v "Additional content defined by implementations" ] ;
fhir:definition [ fhir:v "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance  applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension." ] ;
fhir:comment [ fhir:v "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions.  The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone." ] ;
      ( fhir:alias [ fhir:v "extensions" ] [ fhir:v "user content" ] ) ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "Element.extension" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "Extension"^^xsd:anyURI ;
fhir:l fhir:Extension         ]       ] ) ;
      ( fhir:constraint [
fhir:key [ fhir:v "ele-1" ] ;
fhir:severity [ fhir:v "error" ] ;
fhir:human [ fhir:v "All FHIR elements must have a @value or children" ] ;
fhir:expression [ fhir:v "hasValue() or (children().count() > id.count())" ] ;
fhir:xpath [ fhir:v "@value|f:*|h:div" ] ;
fhir:source [
fhir:v "http://hl7.org/fhir/StructureDefinition/Element"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/Element>         ]       ] [
fhir:key [ fhir:v "ext-1" ] ;
fhir:severity [ fhir:v "error" ] ;
fhir:human [ fhir:v "Must have either extensions or value[x], not both" ] ;
fhir:expression [ fhir:v "extension.exists() != value.exists()" ] ;
fhir:xpath [ fhir:v "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])" ] ;
fhir:source [
fhir:v "http://hl7.org/fhir/StructureDefinition/Extension"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/Extension>         ]       ] ) ;
fhir:isModifier [ fhir:v false ] ;
fhir:isSummary [ fhir:v false ] ;
      ( fhir:mapping [
fhir:identity [ fhir:v "rim" ] ;
fhir:map [ fhir:v "n/a" ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.modifierExtension" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.modifierExtension" ] ;
fhir:short [ fhir:v "Extensions that cannot be ignored even if unrecognized" ] ;
fhir:definition [ fhir:v "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ] ;
fhir:comment [ fhir:v "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions.  The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone." ] ;
fhir:requirements [ fhir:v "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored.  This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension)." ] ;
      ( fhir:alias [ fhir:v "extensions" ] [ fhir:v "user content" ] [ fhir:v "modifiers" ] ) ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "BackboneElement.modifierExtension" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "Extension"^^xsd:anyURI ;
fhir:l fhir:Extension         ]       ] ) ;
      ( fhir:constraint [
fhir:key [ fhir:v "ele-1" ] ;
fhir:severity [ fhir:v "error" ] ;
fhir:human [ fhir:v "All FHIR elements must have a @value or children" ] ;
fhir:expression [ fhir:v "hasValue() or (children().count() > id.count())" ] ;
fhir:xpath [ fhir:v "@value|f:*|h:div" ] ;
fhir:source [
fhir:v "http://hl7.org/fhir/StructureDefinition/Element"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/Element>         ]       ] [
fhir:key [ fhir:v "ext-1" ] ;
fhir:severity [ fhir:v "error" ] ;
fhir:human [ fhir:v "Must have either extensions or value[x], not both" ] ;
fhir:expression [ fhir:v "extension.exists() != value.exists()" ] ;
fhir:xpath [ fhir:v "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])" ] ;
fhir:source [
fhir:v "http://hl7.org/fhir/StructureDefinition/Extension"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/Extension>         ]       ] ) ;
fhir:isModifier [ fhir:v true ] ;
fhir:isModifierReason [ fhir:v "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ] ;
fhir:isSummary [ fhir:v true ] ;
      ( fhir:mapping [
fhir:identity [ fhir:v "rim" ] ;
fhir:map [ fhir:v "N/A" ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp" ] ;
fhir:short [ fhir:v "Fenotyp" ] ;
fhir:definition [ fhir:v "Fenotypické projevy dle HPO." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp" ] ;
fhir:short [ fhir:v "Genotyp" ] ;
fhir:definition [ fhir:v "Genotyp dle HGVS." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
fhir:base [
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp" ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ]       ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] )
  ] ; # 
  fhir:differential [
    ( fhir:element [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz" ] ;
fhir:short [ fhir:v "Diagnóza vzácného onemocnění (cz)" ] ;
fhir:definition [ fhir:v "Záznam diagnózy vzácného onemocnění včetně klasifikace, potvrzovací metody a genetických údajů." ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni" ] ;
fhir:short [ fhir:v "Diagnóza vzácného onemocnění" ] ;
fhir:definition [ fhir:v "Diagnóza, pro kterou je pacient registrován u zadávajícího pracoviště. Pokud má pacient více vzácných onemocnění, lze na stejná administrativní data navázat více formulářů." ] ;
fhir:min [ fhir:v "1"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
      ( fhir:type [
fhir:code [
fhir:v "Base"^^xsd:anyURI ;
fhir:l fhir:Base         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nazev" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nazev" ] ;
fhir:short [ fhir:v "Název onemocnění (diagnózy)" ] ;
fhir:definition [ fhir:v "Diagnóza dle orphacode. Může být uvedeno více hodnot, pokud se vztahují k více diagnózám. Included in CDE: Yes." ] ;
fhir:min [ fhir:v "1"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "preferred" ] ;
fhir:description [ fhir:v "Použít kódování dle orphacode" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.aktualniStav" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.aktualniStav" ] ;
fhir:short [ fhir:v "Aktuální stav diagnózy" ] ;
fhir:definition [ fhir:v "Stav diagnózy – Ongoing, Likely, Confirmed nebo Unknown." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "example" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.metodaPotvrzeni" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.metodaPotvrzeni" ] ;
fhir:short [ fhir:v "Metoda potvrzení diagnózy" ] ;
fhir:definition [ fhir:v "Způsob potvrzení diagnózy: Clinical, Genetic, Biochemical, Biological, Imaging, Functional Exploration, Pathological anatomy, Other. (dotaz na autory: definovat rozdíl mezi 'biochemical' a 'biological')." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.biologickaMetoda" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.biologickaMetoda" ] ;
fhir:short [ fhir:v "Biologická metoda použitá v diagnostice" ] ;
fhir:definition [ fhir:v "Metoda biologické diagnostiky: Chromosomal, APCA, Targeted Sequencing, New Generation Sequencing, Other, N/A." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.gen" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.gen" ] ;
fhir:short [ fhir:v "Gen a mutace (pokud lze použít)" ] ;
fhir:definition [ fhir:v "Kód genu dle HGNC. Vyplňuje se pouze u geneticky podmíněného vzácného onemocnění." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "preferred" ] ;
fhir:description [ fhir:v "Použít kódování HGNC" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.genovaVarianta" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.genovaVarianta" ] ;
fhir:short [ fhir:v "Genová varianta (je-li relevantní)" ] ;
fhir:definition [ fhir:v "Kód genetické varianty dle HGVS. Vyplňuje se pouze u geneticky podmíněného onemocnění." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] ) ;
fhir:binding [
fhir:strength [ fhir:v "preferred" ] ;
fhir:description [ fhir:v "Použít kódování HGVS" ]       ]     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.typOnemocneni" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.typOnemocneni" ] ;
fhir:short [ fhir:v "Sporadické nebo familiární onemocnění" ] ;
fhir:definition [ fhir:v "Označuje, zda je onemocnění sporadické nebo familiární. Možno použít i u onemocnění, kde není gen definován." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "1" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane" ] ;
fhir:short [ fhir:v "Nediagnostikované (undiagnosed) onemocnění" ] ;
fhir:definition [ fhir:v "Používá se, pokud nelze onemocnění klasifikovat konkrétní diagnózou. Termín podle CDE." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
      ( fhir:type [
fhir:code [
fhir:v "BackboneElement"^^xsd:anyURI ;
fhir:l fhir:BackboneElement         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.fenotyp" ] ;
fhir:short [ fhir:v "Fenotyp" ] ;
fhir:definition [ fhir:v "Fenotypické projevy dle HPO." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] [
fhir:id [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp" ] ;
fhir:path [ fhir:v "LogRareDiseaseDiagnosisCz.diagnozaVzacnehoOnemocneni.nediagnostikovane.genotyp" ] ;
fhir:short [ fhir:v "Genotyp" ] ;
fhir:definition [ fhir:v "Genotyp dle HGVS." ] ;
fhir:min [ fhir:v "0"^^xsd:nonNegativeInteger ] ;
fhir:max [ fhir:v "*" ] ;
      ( fhir:type [
fhir:code [
fhir:v "CodeableConcept"^^xsd:anyURI ;
fhir:l fhir:CodeableConcept         ]       ] )     ] )
  ] . #