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 2025-05-12 | Computable Name: KaryotypicSexVS | |||
Value set for capturing karyotypic sex.
References
ValueSet
Expansion from tx.fhir.org based on SNOMED CT International edition 01-Feb 2025
This value set contains 11 concepts
| Code | System | Display (en-US) |
| 261665006 | http://snomed.info/sct | Unknown |
| 734875008 | http://snomed.info/sct | Karyotype 46, XX (cell structure) |
| 734876009 | http://snomed.info/sct | Karyotype 46, XY (cell structure) |
| 80427008 | http://snomed.info/sct | X0 sex chromosome alteration |
| 65162001 | http://snomed.info/sct | XXY sex chromosome alteration |
| 35111009 | http://snomed.info/sct | Trisomy X syndrome |
| 403760006 | http://snomed.info/sct | XXYY syndrome (disorder) |
| 78317008 | http://snomed.info/sct | XXXY syndrome |
| 10567003 | http://snomed.info/sct | Four X syndrome |
| 48930007 | http://snomed.info/sct | XYY sex chromosome alteration |
| 74964007 | http://snomed.info/sct | 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 |