@prefix fhir: . @prefix owl: . @prefix rdf: . @prefix rdfs: . @prefix xsd: . # - resource ------------------------------------------------------------------- a fhir:CodeSystem ; fhir:nodeRole fhir:treeRoot ; fhir:id [ fhir:v "GeneticGender"] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "

Generated Narrative: CodeSystem GeneticGender

Properties

This code system defines the following properties for its concepts

NameCodeURITypeDescriptionValue Set
icdicdhttp://fhir.de/CodeSystem/dimdi/icd-10-gmcodeICDhttp://fhir.de/ValueSet/dimdi/icd-10-gm

Concepts

This case-insensitive code system http://gender.oemig.de/fhir/CodeSystem/GeneticGender defines the following codes in a Is-A hierarchy:

CodeDisplayDefinitionicd
46_XX 46,XXCaryotype (female)Q99.0
46_XY 46,XYCaryotype (male)Q99.0
45_X 45,XTurner-Syndrome with female phenotypeQ96
47_XXY 47,XXYKlinefelter-Syndrome with male phenotypeQ98.0
48_XXXY 48,XXXYKlinefelter-Syndrome with male phenotype (rare)
49_XXXYY 49,XXXYYKlinefelter-Syndrome
49_XXXXY 49,XXXXYKlinefelter-Syndrome with male phenotype (rare)
47_XXX 47,XXXTriplo-X-SyndromeQ97.0
mos45_X46_XX mos45,X/46,XXMosaicQ96.3
mos45_X46_XY mos45,X/46,XYMosaicQ96.4
chi46_XX46_XY chi46,XX/46,XYChimersmQ99.0
47_22 47,22Cat-Eye Syndrome (Trisomy 22)
47_21 47,21Down-Syndrome (Trisomy 21)Q90
47_18 47,18Edwards-Syndrome (Trisomy 18)Q91.0, Q91.1, Q91.2, Q91.3
47_16 47,16Trisomy 16
47_13 47,13Pätau-Syndrome (Triosomy 13)Q91.4, Q91.5, Q91.6
47_9 47,9Trisomy 9Q92
47_8 47,8Warkany Syndrome 2 (Trisomy 8)Q92
48_XXXX 48,XXXXTetrasomy X
49_XXXXX 49,XXXXXPentasomy X
47_XYY 47,XYYXYY-Syndrome
48_XXYY 48,XXYYY-Polysomy
49_XYYYY 49,XYYYYY-Polysomy
"^^rdf:XMLLiteral ] ] ; # fhir:url [ fhir:v "http://gender.oemig.de/fhir/CodeSystem/GeneticGender"^^xsd:anyURI ; fhir:l ] ; # 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 ] ; # 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 ] ; fhir:value [ a fhir:Canonical ; fhir:v "http://fhir.de/ValueSet/dimdi/icd-10-gm"^^xsd:anyURI ; fhir:l ] ] ) ; fhir:code [ fhir:v "icd" ] ; fhir:uri [ fhir:v "http://fhir.de/CodeSystem/dimdi/icd-10-gm"^^xsd:anyURI ; fhir:l ] ; 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" ] ] ) . # # -------------------------------------------------------------------------------------