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

ValueSet: Genetic Gender

Official URL: http://gender.oemig.de/fhir/ValueSet/GeneticGender Version: 0.1.0
Active as of 2024-04-16 Computable Name: GeneticGenderVS

Copyright/Legal: FO

Genetic Gender

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem Genetic Gender v0.1.0 (CodeSystem)

This value set contains 23 concepts

SystemCodeDisplay (en)DefinitionJSONXML
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  46_XX46,XXCaryotype (female)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  46_XY46,XYCaryotype (male)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  45_X45,XTurner-Syndrome with female phenotype
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_XXY47,XXYKlinefelter-Syndrome with male phenotype
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  48_XXXY48,XXXYKlinefelter-Syndrome with male phenotype (rare)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  49_XXXYY49,XXXYYKlinefelter-Syndrome
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  49_XXXXY49,XXXXYKlinefelter-Syndrome with male phenotype (rare)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_XXX47,XXXTriplo-X-Syndrome
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  mos45_X46_XXmos45,X/46,XXMosaic
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  mos45_X46_XYmos45,X/46,XYMosaic
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  chi46_XX46_XYchi46,XX/46,XYChimersm
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_2247,22Cat-Eye Syndrome (Trisomy 22)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_2147,21Down-Syndrome (Trisomy 21)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_1847,18Edwards-Syndrome (Trisomy 18)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_1647,16Trisomy 16
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_1347,13Pätau-Syndrome (Triosomy 13)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_947,9Trisomy 9
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_847,8Warkany Syndrome 2 (Trisomy 8)
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  48_XXXX48,XXXXTetrasomy X
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  49_XXXXX49,XXXXXPentasomy X
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  47_XYY47,XYYXYY-Syndrome
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  48_XXYY48,XXYYY-Polysomy
http://gender.oemig.de/fhir/CodeSystem/GeneticGender  49_XYYYY49,XYYYYY-Polysomy

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code