Genetic Gender - TTL Representation - A Set of Codesystems for Gender v0.1.0

A Set of Codesystems for Gender, published by FO. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/frankoemig/gender/ and changes regularly. See the Directory of published versions
: Genetic Gender - TTL Representation

Active as of 2024-04-16
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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:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "GeneticGender"] ; # 
  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: CodeSystem GeneticGender</b></p><a name=\"GeneticGender\"> </a><a name=\"hcGeneticGender\"> </a><p><b>Properties</b></p><p><b>This code system defines the following properties for its concepts</b></p><table class=\"grid\"><tr><td><b>Name</b></td><td><b>Code</b></td><td><b>URI</b></td><td><b>Type</b></td><td><b>Description</b></td><td><b>Value Set</b></td></tr><tr><td>icd</td><td>icd</td><td>http://fhir.de/CodeSystem/dimdi/icd-10-gm</td><td>code</td><td>ICD</td><td><code>http://fhir.de/ValueSet/dimdi/icd-10-gm</code></td></tr></table><p><b>Concepts</b></p><p>This case-insensitive code system <code>http://gender.oemig.de/fhir/CodeSystem/GeneticGender</code> defines the following codes in a Is-A hierarchy:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td><td><b>icd</b></td></tr><tr><td style=\"white-space:nowrap\">46_XX<a name=\"GeneticGender-46_XX\"> </a></td><td>46,XX</td><td>Caryotype (female)</td><td>Q99.0</td></tr><tr><td style=\"white-space:nowrap\">46_XY<a name=\"GeneticGender-46_XY\"> </a></td><td>46,XY</td><td>Caryotype (male)</td><td>Q99.0</td></tr><tr><td style=\"white-space:nowrap\">45_X<a name=\"GeneticGender-45_X\"> </a></td><td>45,X</td><td>Turner-Syndrome with female phenotype</td><td>Q96</td></tr><tr><td style=\"white-space:nowrap\">47_XXY<a name=\"GeneticGender-47_XXY\"> </a></td><td>47,XXY</td><td>Klinefelter-Syndrome with male phenotype</td><td>Q98.0</td></tr><tr><td style=\"white-space:nowrap\">48_XXXY<a name=\"GeneticGender-48_XXXY\"> </a></td><td>48,XXXY</td><td>Klinefelter-Syndrome with male phenotype (rare)</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XXXYY<a name=\"GeneticGender-49_XXXYY\"> </a></td><td>49,XXXYY</td><td>Klinefelter-Syndrome</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XXXXY<a name=\"GeneticGender-49_XXXXY\"> </a></td><td>49,XXXXY</td><td>Klinefelter-Syndrome with male phenotype (rare)</td><td/></tr><tr><td style=\"white-space:nowrap\">47_XXX<a name=\"GeneticGender-47_XXX\"> </a></td><td>47,XXX</td><td>Triplo-X-Syndrome</td><td>Q97.0</td></tr><tr><td style=\"white-space:nowrap\">mos45_X46_XX<a name=\"GeneticGender-mos45_X46_XX\"> </a></td><td>mos45,X/46,XX</td><td>Mosaic</td><td>Q96.3</td></tr><tr><td style=\"white-space:nowrap\">mos45_X46_XY<a name=\"GeneticGender-mos45_X46_XY\"> </a></td><td>mos45,X/46,XY</td><td>Mosaic</td><td>Q96.4</td></tr><tr><td style=\"white-space:nowrap\">chi46_XX46_XY<a name=\"GeneticGender-chi46_XX46_XY\"> </a></td><td>chi46,XX/46,XY</td><td>Chimersm</td><td>Q99.0</td></tr><tr><td style=\"white-space:nowrap\">47_22<a name=\"GeneticGender-47_22\"> </a></td><td>47,22</td><td>Cat-Eye Syndrome (Trisomy 22)</td><td/></tr><tr><td style=\"white-space:nowrap\">47_21<a name=\"GeneticGender-47_21\"> </a></td><td>47,21</td><td>Down-Syndrome (Trisomy 21)</td><td>Q90</td></tr><tr><td style=\"white-space:nowrap\">47_18<a name=\"GeneticGender-47_18\"> </a></td><td>47,18</td><td>Edwards-Syndrome (Trisomy 18)</td><td>Q91.0, Q91.1, Q91.2, Q91.3</td></tr><tr><td style=\"white-space:nowrap\">47_16<a name=\"GeneticGender-47_16\"> </a></td><td>47,16</td><td>Trisomy 16</td><td/></tr><tr><td style=\"white-space:nowrap\">47_13<a name=\"GeneticGender-47_13\"> </a></td><td>47,13</td><td>Pätau-Syndrome (Triosomy 13)</td><td>Q91.4, Q91.5, Q91.6</td></tr><tr><td style=\"white-space:nowrap\">47_9<a name=\"GeneticGender-47_9\"> </a></td><td>47,9</td><td>Trisomy 9</td><td>Q92</td></tr><tr><td style=\"white-space:nowrap\">47_8<a name=\"GeneticGender-47_8\"> </a></td><td>47,8</td><td>Warkany Syndrome 2 (Trisomy 8)</td><td>Q92</td></tr><tr><td style=\"white-space:nowrap\">48_XXXX<a name=\"GeneticGender-48_XXXX\"> </a></td><td>48,XXXX</td><td>Tetrasomy X</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XXXXX<a name=\"GeneticGender-49_XXXXX\"> </a></td><td>49,XXXXX</td><td>Pentasomy X</td><td/></tr><tr><td style=\"white-space:nowrap\">47_XYY<a name=\"GeneticGender-47_XYY\"> </a></td><td>47,XYY</td><td>XYY-Syndrome</td><td/></tr><tr><td style=\"white-space:nowrap\">48_XXYY<a name=\"GeneticGender-48_XXYY\"> </a></td><td>48,XXYY</td><td>Y-Polysomy</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XYYYY<a name=\"GeneticGender-49_XYYYY\"> </a></td><td>49,XYYYY</td><td>Y-Polysomy</td><td/></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "http://gender.oemig.de/fhir/CodeSystem/GeneticGender"^^xsd:anyURI ;
fhir:l <http://gender.oemig.de/fhir/CodeSystem/GeneticGender>
  ] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "GeneticGenderCS"] ; # 
  fhir:title [ fhir:v "Genetic Gender"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2024-04-16"^^xsd:date] ; # 
  fhir:publisher [ fhir:v "FO"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "FO" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.oemig.de" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "genetic gender"] ; # 
  fhir:copyright [ fhir:v "FO"] ; # 
  fhir:caseSensitive [ fhir:v false] ; # 
  fhir:valueSet [
fhir:v "http://gender.oemig.de/fhir/ValueSet/GeneticGender"^^xsd:anyURI ;
fhir:l <http://gender.oemig.de/fhir/ValueSet/GeneticGender>
  ] ; # 
  fhir:hierarchyMeaning [ fhir:v "is-a"] ; # 
  fhir:compositional [ fhir:v false] ; # 
  fhir:versionNeeded [ fhir:v false] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "23"^^xsd:nonNegativeInteger] ; # 
  fhir:property ( [
    ( fhir:extension [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/codesystem-property-valueset"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/codesystem-property-valueset>       ] ;
fhir:value [
a fhir:Canonical ;
fhir:v "http://fhir.de/ValueSet/dimdi/icd-10-gm"^^xsd:anyURI ;
fhir:l <http://fhir.de/ValueSet/dimdi/icd-10-gm>       ]     ] ) ;
fhir:code [ fhir:v "icd" ] ;
fhir:uri [
fhir:v "http://fhir.de/CodeSystem/dimdi/icd-10-gm"^^xsd:anyURI ;
fhir:l <http://fhir.de/CodeSystem/dimdi/icd-10-gm>     ] ;
fhir:description [ fhir:v "ICD" ] ;
fhir:type [ fhir:v "code" ]
  ] ) ; # 
  fhir:concept ( [
fhir:code [ fhir:v "46_XX" ] ;
fhir:display [ fhir:v "46,XX" ] ;
fhir:definition [ fhir:v "Caryotype (female)" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q99.0"       ]     ] )
  ] [
fhir:code [ fhir:v "46_XY" ] ;
fhir:display [ fhir:v "46,XY" ] ;
fhir:definition [ fhir:v "Caryotype (male)" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q99.0"       ]     ] )
  ] [
fhir:code [ fhir:v "45_X" ] ;
fhir:display [ fhir:v "45,X" ] ;
fhir:definition [ fhir:v "Turner-Syndrome with female phenotype" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q96"       ]     ] )
  ] [
fhir:code [ fhir:v "47_XXY" ] ;
fhir:display [ fhir:v "47,XXY" ] ;
fhir:definition [ fhir:v "Klinefelter-Syndrome with male phenotype" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q98.0"       ]     ] )
  ] [
fhir:code [ fhir:v "48_XXXY" ] ;
fhir:display [ fhir:v "48,XXXY" ] ;
fhir:definition [ fhir:v "Klinefelter-Syndrome with male phenotype (rare)" ]
  ] [
fhir:code [ fhir:v "49_XXXYY" ] ;
fhir:display [ fhir:v "49,XXXYY" ] ;
fhir:definition [ fhir:v "Klinefelter-Syndrome" ]
  ] [
fhir:code [ fhir:v "49_XXXXY" ] ;
fhir:display [ fhir:v "49,XXXXY" ] ;
fhir:definition [ fhir:v "Klinefelter-Syndrome with male phenotype (rare)" ]
  ] [
fhir:code [ fhir:v "47_XXX" ] ;
fhir:display [ fhir:v "47,XXX" ] ;
fhir:definition [ fhir:v "Triplo-X-Syndrome" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q97.0"       ]     ] )
  ] [
fhir:code [ fhir:v "mos45_X46_XX" ] ;
fhir:display [ fhir:v "mos45,X/46,XX" ] ;
fhir:definition [ fhir:v "Mosaic" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q96.3"       ]     ] )
  ] [
fhir:code [ fhir:v "mos45_X46_XY" ] ;
fhir:display [ fhir:v "mos45,X/46,XY" ] ;
fhir:definition [ fhir:v "Mosaic" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q96.4"       ]     ] )
  ] [
fhir:code [ fhir:v "chi46_XX46_XY" ] ;
fhir:display [ fhir:v "chi46,XX/46,XY" ] ;
fhir:definition [ fhir:v "Chimersm" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q99.0"       ]     ] )
  ] [
fhir:code [ fhir:v "47_22" ] ;
fhir:display [ fhir:v "47,22" ] ;
fhir:definition [ fhir:v "Cat-Eye Syndrome (Trisomy 22)" ]
  ] [
fhir:code [ fhir:v "47_21" ] ;
fhir:display [ fhir:v "47,21" ] ;
fhir:definition [ fhir:v "Down-Syndrome (Trisomy 21)" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q90"       ]     ] )
  ] [
fhir:code [ fhir:v "47_18" ] ;
fhir:display [ fhir:v "47,18" ] ;
fhir:definition [ fhir:v "Edwards-Syndrome (Trisomy 18)" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q91.0"       ]     ] [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q91.1"       ]     ] [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q91.2"       ]     ] [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q91.3"       ]     ] )
  ] [
fhir:code [ fhir:v "47_16" ] ;
fhir:display [ fhir:v "47,16" ] ;
fhir:definition [ fhir:v "Trisomy 16" ]
  ] [
fhir:code [ fhir:v "47_13" ] ;
fhir:display [ fhir:v "47,13" ] ;
fhir:definition [ fhir:v "Pätau-Syndrome (Triosomy 13)" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q91.4"       ]     ] [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q91.5"       ]     ] [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q91.6"       ]     ] )
  ] [
fhir:code [ fhir:v "47_9" ] ;
fhir:display [ fhir:v "47,9" ] ;
fhir:definition [ fhir:v "Trisomy 9" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q92"       ]     ] )
  ] [
fhir:code [ fhir:v "47_8" ] ;
fhir:display [ fhir:v "47,8" ] ;
fhir:definition [ fhir:v "Warkany Syndrome 2 (Trisomy 8)" ] ;
    ( fhir:property [
fhir:code [ fhir:v "icd" ] ;
fhir:value [
a fhir:Code ;
fhir:v "Q92"       ]     ] )
  ] [
fhir:code [ fhir:v "48_XXXX" ] ;
fhir:display [ fhir:v "48,XXXX" ] ;
fhir:definition [ fhir:v "Tetrasomy X" ]
  ] [
fhir:code [ fhir:v "49_XXXXX" ] ;
fhir:display [ fhir:v "49,XXXXX" ] ;
fhir:definition [ fhir:v "Pentasomy X" ]
  ] [
fhir:code [ fhir:v "47_XYY" ] ;
fhir:display [ fhir:v "47,XYY" ] ;
fhir:definition [ fhir:v "XYY-Syndrome" ]
  ] [
fhir:code [ fhir:v "48_XXYY" ] ;
fhir:display [ fhir:v "48,XXYY" ] ;
fhir:definition [ fhir:v "Y-Polysomy" ]
  ] [
fhir:code [ fhir:v "49_XYYYY" ] ;
fhir:display [ fhir:v "49,XYYYY" ] ;
fhir:definition [ fhir:v "Y-Polysomy" ]
  ] ) . #