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