RareLink Implementation Guide
2.0.0 - 2.0.0
RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Official URL: https://rarelink.bih-charite.de/fhir/ValueSet/karyotypic-sex-vs | Version: 2.0.0 | |||
| Draft as of 2025-12-15 | Computable Name: KaryotypicSexVS | |||
Value set for capturing karyotypic sex.
References
Expansion from tx.fhir.org based on SNOMED CT International edition 01-Feb 2025
This value set contains 11 concepts
| System | Code | Display (en) | JSON | XML |
http://snomed.info/sct | 261665006 | Unknown | ||
http://snomed.info/sct | 734875008 | Karyotype 46, XX (cell structure) | ||
http://snomed.info/sct | 734876009 | Karyotype 46, XY (cell structure) | ||
http://snomed.info/sct | 80427008 | X0 sex chromosome alteration | ||
http://snomed.info/sct | 65162001 | XXY sex chromosome alteration | ||
http://snomed.info/sct | 35111009 | Trisomy X syndrome | ||
http://snomed.info/sct | 403760006 | XXYY syndrome (disorder) | ||
http://snomed.info/sct | 78317008 | XXXY syndrome | ||
http://snomed.info/sct | 10567003 | Four X syndrome | ||
http://snomed.info/sct | 48930007 | XYY sex chromosome alteration | ||
http://snomed.info/sct | 74964007 | Other |
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 |