SHIFT SLS ValueSets Implementation Guide
0.1.0 - ci-build

SHIFT SLS ValueSets Implementation Guide, published by SHIFT-Task-Force. 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/SHIFT-Task-Force/SLS-ValueSets/ and changes regularly. See the Directory of published versions

## ValueSet: Synthea Genetic Disability Codes

Official URL: http://SHIFT-Task-Force.github.io/slsValueSets/ValueSet/SyntheaGeneticVS | Version: 0.1.0
Active as of 2026-02-04 | Computable Name: SyntheaGeneticVS
Usage:Clinical Focus: genetic disease information sensitivity

A comprehensive ValueSet encompassing codes from all Synthea modules related to genetic diseases.

v3-ActCode#GDIS

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

### Logical Definition (CLD)

- Import all the codes that are contained in Synthea Codes for cystic_fibrosis

### Expansion

Expansion from tx.fhir.org based on:

- SNOMED CT International edition 01-Feb 2025
- codesystem RxNorm version ??
- valueset Synthea Codes for cystic_fibrosis v0.1.0 (ValueSet)

This value set contains 34 concepts

System | Code | Display (en) | JSON | XML
`http://snomed.info/sct` | 190905008 | Cystic fibrosis |  |
`http://snomed.info/sct` | 67799006 | Cystic fibrosis, prenatal detection |  |
`http://snomed.info/sct` | 86964003 | Cystic fibrosis sweat test |  |
`http://snomed.info/sct` | 444260001 | Screen for 20 common genetic mutations of cystic fibrosis using amplification refractory mutation system polymerase chain reaction assay technique (procedure) |  |
`http://snomed.info/sct` | 206523001 | Meconium ileus |  |
`http://snomed.info/sct` | 61919008 | Giving patient an enema |  |
`http://snomed.info/sct` | 707418001 | Male infertility due to cystic fibrosis (disorder) |  |
`http://snomed.info/sct` | 707577004 | Female infertility due to cystic fibrosis (disorder) |  |
`http://snomed.info/sct` | 60151004 | Neonatal screening |  |
`http://snomed.info/sct` | 734163000 | Care plan (record artifact) |  |
`http://snomed.info/sct` | 185349003 | Encounter for check up (procedure) |  |
`http://snomed.info/sct` | 399208008 | Plain chest X-ray |  |
`http://snomed.info/sct` | 104173009 | Microbial culture of sputum |  |
`http://snomed.info/sct` | 427089005 | Diabetes mellitus due to cystic fibrosis (disorder) |  |
`http://snomed.info/sct` | 113076002 | Glucose tolerance test |  |
`http://snomed.info/sct` | 703040004 | Agreeing on diabetes care plan (procedure) |  |
`http://snomed.info/sct` | 232657004 | Single lung transplant |  |
`http://snomed.info/sct` | 82078001 | Collection of blood specimen for laboratory |  |
`http://snomed.info/sct` | 23426006 | Measurement of respiratory function |  |
`http://snomed.info/sct` | 11218009 | Infection caused by Pseudomonas aeruginosa |  |
`http://snomed.info/sct` | 406602003 | Staphylococcus aureus infection |  |
`http://snomed.info/sct` | 448813005 | Sepsis caused by Pseudomonas |  |
`http://snomed.info/sct` | 50849002 | Emergency room admission |  |
`http://snomed.info/sct` | 14152002 | Intravenous infusion |  |
`http://snomed.info/sct` | 281790008 | Intravenous antibiotic therapy |  |
`http://snomed.info/sct` | 448417001 | Sepsis caused by Staphylococcus aureus (disorder) |  |
`http://snomed.info/sct` | 48387007 | Incision of trachea |  |
`http://snomed.info/sct` | 65710008 | Acute respiratory failure |  |
`http://snomed.info/sct` | 16602611000119108 | Awaiting transplantation of lung (situation) |  |
`http://www.nlm.nih.gov/research/umls/rxnorm` | 198767 | pancreatin 600 MG Oral Tablet |  |
`http://www.nlm.nih.gov/research/umls/rxnorm` | 1243052 | kalydeco 150 MG Oral Tablet |  |
`http://www.nlm.nih.gov/research/umls/rxnorm` | 205532 | PULMOZYME 1 MG/ML Inhalation Solution |  |
`http://www.nlm.nih.gov/research/umls/rxnorm` | 1665227 | 20 ML ciprofloxacin 10 MG/ML Injection |  |
`http://www.nlm.nih.gov/research/umls/rxnorm` | 313572 | vancomycin 50 MG/ML Injectable Solution |  |

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