A Set of Codesystems for Gender
0.1.0 - ci-build
A Set of Codesystems for Gender
0.1.0 - ci-build
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
| Active as of 2024-04-16 |
@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
<http://hl7.org/fhir/CodeSystem/GeneticGender> a fhir:CodeSystem ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "GeneticGender"] ;
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ] ;
fhir:Narrative.div "<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>"
] ;
fhir:CodeSystem.url [ fhir:value "http://gender.oemig.de/fhir/CodeSystem/GeneticGender"] ;
fhir:CodeSystem.version [ fhir:value "0.1.0"] ;
fhir:CodeSystem.name [ fhir:value "GeneticGenderCS"] ;
fhir:CodeSystem.title [ fhir:value "Genetic Gender"] ;
fhir:CodeSystem.status [ fhir:value "active"] ;
fhir:CodeSystem.experimental [ fhir:value "false"^^xsd:boolean] ;
fhir:CodeSystem.date [ fhir:value "2024-04-16"^^xsd:date] ;
fhir:CodeSystem.publisher [ fhir:value "FO"] ;
fhir:CodeSystem.contact [
fhir:index 0 ;
fhir:ContactDetail.name [ fhir:value "FO" ] ;
fhir:ContactDetail.telecom [
fhir:index 0 ;
fhir:ContactPoint.system [ fhir:value "url" ] ;
fhir:ContactPoint.value [ fhir:value "http://www.oemig.de" ]
]
] ;
fhir:CodeSystem.description [ fhir:value "genetic gender"] ;
fhir:CodeSystem.copyright [ fhir:value "FO"] ;
fhir:CodeSystem.caseSensitive [ fhir:value "false"^^xsd:boolean] ;
fhir:CodeSystem.valueSet [
fhir:value "http://gender.oemig.de/fhir/ValueSet/GeneticGender" ;
fhir:link <http://gender.oemig.de/fhir/ValueSet/GeneticGender>
] ;
fhir:CodeSystem.hierarchyMeaning [ fhir:value "is-a"] ;
fhir:CodeSystem.compositional [ fhir:value "false"^^xsd:boolean] ;
fhir:CodeSystem.versionNeeded [ fhir:value "false"^^xsd:boolean] ;
fhir:CodeSystem.content [ fhir:value "complete"] ;
fhir:CodeSystem.count [ fhir:value "23"^^xsd:nonNegativeInteger] ;
fhir:CodeSystem.property [
fhir:index 0 ;
fhir:Element.extension [
fhir:index 0 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/codesystem-property-valueset" ] ;
fhir:Extension.valueCanonical [
fhir:value "http://fhir.de/ValueSet/dimdi/icd-10-gm" ;
fhir:link <http://fhir.de/ValueSet/dimdi/icd-10-gm>
]
] ;
fhir:CodeSystem.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.property.uri [ fhir:value "http://fhir.de/CodeSystem/dimdi/icd-10-gm" ] ;
fhir:CodeSystem.property.description [ fhir:value "ICD" ] ;
fhir:CodeSystem.property.type [ fhir:value "code" ]
] ;
fhir:CodeSystem.concept [
fhir:index 0 ;
fhir:CodeSystem.concept.code [ fhir:value "46_XX" ] ;
fhir:CodeSystem.concept.display [ fhir:value "46,XX" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Caryotype (female)" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q99.0" ]
]
], [
fhir:index 1 ;
fhir:CodeSystem.concept.code [ fhir:value "46_XY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "46,XY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Caryotype (male)" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q99.0" ]
]
], [
fhir:index 2 ;
fhir:CodeSystem.concept.code [ fhir:value "45_X" ] ;
fhir:CodeSystem.concept.display [ fhir:value "45,X" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Turner-Syndrome with female phenotype" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q96" ]
]
], [
fhir:index 3 ;
fhir:CodeSystem.concept.code [ fhir:value "47_XXY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,XXY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Klinefelter-Syndrome with male phenotype" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q98.0" ]
]
], [
fhir:index 4 ;
fhir:CodeSystem.concept.code [ fhir:value "48_XXXY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "48,XXXY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Klinefelter-Syndrome with male phenotype (rare)" ]
], [
fhir:index 5 ;
fhir:CodeSystem.concept.code [ fhir:value "49_XXXYY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "49,XXXYY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Klinefelter-Syndrome" ]
], [
fhir:index 6 ;
fhir:CodeSystem.concept.code [ fhir:value "49_XXXXY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "49,XXXXY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Klinefelter-Syndrome with male phenotype (rare)" ]
], [
fhir:index 7 ;
fhir:CodeSystem.concept.code [ fhir:value "47_XXX" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,XXX" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Triplo-X-Syndrome" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q97.0" ]
]
], [
fhir:index 8 ;
fhir:CodeSystem.concept.code [ fhir:value "mos45_X46_XX" ] ;
fhir:CodeSystem.concept.display [ fhir:value "mos45,X/46,XX" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Mosaic" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q96.3" ]
]
], [
fhir:index 9 ;
fhir:CodeSystem.concept.code [ fhir:value "mos45_X46_XY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "mos45,X/46,XY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Mosaic" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q96.4" ]
]
], [
fhir:index 10 ;
fhir:CodeSystem.concept.code [ fhir:value "chi46_XX46_XY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "chi46,XX/46,XY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Chimersm" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q99.0" ]
]
], [
fhir:index 11 ;
fhir:CodeSystem.concept.code [ fhir:value "47_22" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,22" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Cat-Eye Syndrome (Trisomy 22)" ]
], [
fhir:index 12 ;
fhir:CodeSystem.concept.code [ fhir:value "47_21" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,21" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Down-Syndrome (Trisomy 21)" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q90" ]
]
], [
fhir:index 13 ;
fhir:CodeSystem.concept.code [ fhir:value "47_18" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,18" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Edwards-Syndrome (Trisomy 18)" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q91.0" ]
], [
fhir:index 1 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q91.1" ]
], [
fhir:index 2 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q91.2" ]
], [
fhir:index 3 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q91.3" ]
]
], [
fhir:index 14 ;
fhir:CodeSystem.concept.code [ fhir:value "47_16" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,16" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Trisomy 16" ]
], [
fhir:index 15 ;
fhir:CodeSystem.concept.code [ fhir:value "47_13" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,13" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Pätau-Syndrome (Triosomy 13)" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q91.4" ]
], [
fhir:index 1 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q91.5" ]
], [
fhir:index 2 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q91.6" ]
]
], [
fhir:index 16 ;
fhir:CodeSystem.concept.code [ fhir:value "47_9" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,9" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Trisomy 9" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q92" ]
]
], [
fhir:index 17 ;
fhir:CodeSystem.concept.code [ fhir:value "47_8" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,8" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Warkany Syndrome 2 (Trisomy 8)" ] ;
fhir:CodeSystem.concept.property [
fhir:index 0 ;
fhir:CodeSystem.concept.property.code [ fhir:value "icd" ] ;
fhir:CodeSystem.concept.property.valueCode [ fhir:value "Q92" ]
]
], [
fhir:index 18 ;
fhir:CodeSystem.concept.code [ fhir:value "48_XXXX" ] ;
fhir:CodeSystem.concept.display [ fhir:value "48,XXXX" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Tetrasomy X" ]
], [
fhir:index 19 ;
fhir:CodeSystem.concept.code [ fhir:value "49_XXXXX" ] ;
fhir:CodeSystem.concept.display [ fhir:value "49,XXXXX" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Pentasomy X" ]
], [
fhir:index 20 ;
fhir:CodeSystem.concept.code [ fhir:value "47_XYY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "47,XYY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "XYY-Syndrome" ]
], [
fhir:index 21 ;
fhir:CodeSystem.concept.code [ fhir:value "48_XXYY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "48,XXYY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Y-Polysomy" ]
], [
fhir:index 22 ;
fhir:CodeSystem.concept.code [ fhir:value "49_XYYYY" ] ;
fhir:CodeSystem.concept.display [ fhir:value "49,XYYYY" ] ;
fhir:CodeSystem.concept.definition [ fhir:value "Y-Polysomy" ]
] .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/CodeSystem/GeneticGender.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/CodeSystem/GeneticGender.ttl> .
IG © 2026+ FO. Package gender#0.1.0 based on FHIR 4.0.1. Generated 2026-09-22
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