Phenomics Exchange for Research and Diagnostics
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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

CodeSystem: Karyotypic sex code system

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

Copyright/Legal: Global Alliance for Genomics and Health

karyotypic sex of an individual (also known as chromosomal sex)

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSex defines the following codes:

CodeDisplayDefinition
UNKNOWN_KARYOTYPE UNKNOWN_KARYOTYPEUntyped or inconclusive karyotyping
XX XX karyotypic sexKaryotype with two X chromosomes
XY XY karyotypic sexKaryotype with one X chromosome and one Y chromosome
XO XO karyotypic sexKaryotype with one X chromosome
XXY XXY karyotypic sexKaryotype with two X chromosomes and one Y chromosome
XXX XXX karyotypic sexKaryotype with three X chromosomes
XXYY XXYY karyotypic sexKaryotype with two X chromosomes and two Y chromosomes
XXXY XXXY karyotypic sexKaryotype with three X chromosomes and one Y chromosome
XXXX XXXX karyotypic sexKaryotype with four X chromosomes
XYY XYY karyotypic sexKaryotype with one X chromosome and two Y chromosomes
OTHER_KARYOTYPE Other karyotypeKaryotype with sex chromosomes other than XX,XY,X0,XXY,XXX,XXYY,XXXY,XXXX, or XYY