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/zygosity-vs | Version: 2.0.0 | |||
| Draft as of 2025-12-15 | Computable Name: ZygosityVS | |||
LOINC LA codes enumerating various zygosity states.
References
Expansion from tx.fhir.org based on Loinc v2.80
This value set contains 7 concepts
| System | Code | Display (en) | JSON | XML |
http://loinc.org | LA6705-3 | Homozygous | ||
http://loinc.org | LA6706-1 | Heterozygous | ||
http://loinc.org | LA26217-2 | Compound heterozygous | ||
http://loinc.org | LA26220-6 | Double heterozygous | ||
http://loinc.org | LA6707-9 | Hemizygous | ||
http://loinc.org | LA6703-8 | Heteroplasmic | ||
http://loinc.org | LA6704-6 | Homoplasmic |
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 |