Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. 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/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

ValueSet: Karyotypic sex value set

Official URL: http://hl7.org/fhir/uv/phenomics-exchange/ValueSet/KaryotypicSex Version: 0.1.0
Draft as of 2021-05-28 Computable Name: KaryotypicSex

Copyright/Legal: Global Alliance for Genomics and Health

The karyotypic (chromosomal) sex of an individual

References

Logical Definition (CLD)

 

Expansion

Expansion based on codesystem Karyotypic sex code system v0.1.0 (CodeSystem)

This value set contains 11 concepts

CodeSystemDisplayDefinition
  UNKNOWN_KARYOTYPEhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexUNKNOWN_KARYOTYPE

Untyped or inconclusive karyotyping

  XXhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXX karyotypic sex

Karyotype with two X chromosomes

  XYhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXY karyotypic sex

Karyotype with one X chromosome and one Y chromosome

  XOhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXO karyotypic sex

Karyotype with one X chromosome

  XXYhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXXY karyotypic sex

Karyotype with two X chromosomes and one Y chromosome

  XXXhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXXX karyotypic sex

Karyotype with three X chromosomes

  XXYYhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXXYY karyotypic sex

Karyotype with two X chromosomes and two Y chromosomes

  XXXYhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXXXY karyotypic sex

Karyotype with three X chromosomes and one Y chromosome

  XXXXhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXXXX karyotypic sex

Karyotype with four X chromosomes

  XYYhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexXYY karyotypic sex

Karyotype with one X chromosome and two Y chromosomes

  OTHER_KARYOTYPEhttp://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSexOther karyotype

Karyotype with sex chromosomes other than XX,XY,X0,XXY,XXX,XXYY,XXXY,XXXX, or XYY

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