{ "resourceType" : "CodeSystem", "id" : "GeneticGender", "text" : { "status" : "generated", "div" : "

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
" }, "url" : "http://gender.oemig.de/fhir/CodeSystem/GeneticGender", "version" : "0.1.0", "name" : "GeneticGenderCS", "title" : "Genetic Gender", "status" : "active", "experimental" : false, "date" : "2024-04-16", "publisher" : "FO", "contact" : [{ "name" : "FO", "telecom" : [{ "system" : "url", "value" : "http://www.oemig.de" }] }], "description" : "genetic gender", "copyright" : "FO", "caseSensitive" : false, "valueSet" : "http://gender.oemig.de/fhir/ValueSet/GeneticGender", "hierarchyMeaning" : "is-a", "compositional" : false, "versionNeeded" : false, "content" : "complete", "count" : 23, "property" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/codesystem-property-valueset", "valueCanonical" : "http://fhir.de/ValueSet/dimdi/icd-10-gm" }], "code" : "icd", "uri" : "http://fhir.de/CodeSystem/dimdi/icd-10-gm", "description" : "ICD", "type" : "code" }], "concept" : [{ "code" : "46_XX", "display" : "46,XX", "definition" : "Caryotype (female)", "property" : [{ "code" : "icd", "valueCode" : "Q99.0" }] }, { "code" : "46_XY", "display" : "46,XY", "definition" : "Caryotype (male)", "property" : [{ "code" : "icd", "valueCode" : "Q99.0" }] }, { "code" : "45_X", "display" : "45,X", "definition" : "Turner-Syndrome with female phenotype", "property" : [{ "code" : "icd", "valueCode" : "Q96" }] }, { "code" : "47_XXY", "display" : "47,XXY", "definition" : "Klinefelter-Syndrome with male phenotype", "property" : [{ "code" : "icd", "valueCode" : "Q98.0" }] }, { "code" : "48_XXXY", "display" : "48,XXXY", "definition" : "Klinefelter-Syndrome with male phenotype (rare)" }, { "code" : "49_XXXYY", "display" : "49,XXXYY", "definition" : "Klinefelter-Syndrome" }, { "code" : "49_XXXXY", "display" : "49,XXXXY", "definition" : "Klinefelter-Syndrome with male phenotype (rare)" }, { "code" : "47_XXX", "display" : "47,XXX", "definition" : "Triplo-X-Syndrome", "property" : [{ "code" : "icd", "valueCode" : "Q97.0" }] }, { "code" : "mos45_X46_XX", "display" : "mos45,X/46,XX", "definition" : "Mosaic", "property" : [{ "code" : "icd", "valueCode" : "Q96.3" }] }, { "code" : "mos45_X46_XY", "display" : "mos45,X/46,XY", "definition" : "Mosaic", "property" : [{ "code" : "icd", "valueCode" : "Q96.4" }] }, { "code" : "chi46_XX46_XY", "display" : "chi46,XX/46,XY", "definition" : "Chimersm", "property" : [{ "code" : "icd", "valueCode" : "Q99.0" }] }, { "code" : "47_22", "display" : "47,22", "definition" : "Cat-Eye Syndrome (Trisomy 22)" }, { "code" : "47_21", "display" : "47,21", "definition" : "Down-Syndrome (Trisomy 21)", "property" : [{ "code" : "icd", "valueCode" : "Q90" }] }, { "code" : "47_18", "display" : "47,18", "definition" : "Edwards-Syndrome (Trisomy 18)", "property" : [{ "code" : "icd", "valueCode" : "Q91.0" }, { "code" : "icd", "valueCode" : "Q91.1" }, { "code" : "icd", "valueCode" : "Q91.2" }, { "code" : "icd", "valueCode" : "Q91.3" }] }, { "code" : "47_16", "display" : "47,16", "definition" : "Trisomy 16" }, { "code" : "47_13", "display" : "47,13", "definition" : "Pätau-Syndrome (Triosomy 13)", "property" : [{ "code" : "icd", "valueCode" : "Q91.4" }, { "code" : "icd", "valueCode" : "Q91.5" }, { "code" : "icd", "valueCode" : "Q91.6" }] }, { "code" : "47_9", "display" : "47,9", "definition" : "Trisomy 9", "property" : [{ "code" : "icd", "valueCode" : "Q92" }] }, { "code" : "47_8", "display" : "47,8", "definition" : "Warkany Syndrome 2 (Trisomy 8)", "property" : [{ "code" : "icd", "valueCode" : "Q92" }] }, { "code" : "48_XXXX", "display" : "48,XXXX", "definition" : "Tetrasomy X" }, { "code" : "49_XXXXX", "display" : "49,XXXXX", "definition" : "Pentasomy X" }, { "code" : "47_XYY", "display" : "47,XYY", "definition" : "XYY-Syndrome" }, { "code" : "48_XXYY", "display" : "48,XXYY", "definition" : "Y-Polysomy" }, { "code" : "49_XYYYY", "display" : "49,XYYYY", "definition" : "Y-Polysomy" }] }