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ShiftPrivacyExamples, published by SHIFT-Task-Force. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/SHIFT-Task-Force/demo-fhir-data/ and changes regularly. See the Directory of published versions

ValueSet: Synthea Genetic Disability Codes

Official URL: http://SHIFT-Task-Force.github.io/demo-fhir-data/ValueSet/SyntheaGeneticVS Version: 0.0.1
Active as of 2025-11-17 Computable Name: SyntheaGeneticVS

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

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)

 

Expansion

Expansion from tx.fhir.org based on:

This value set contains 34 concepts

SystemCodeDisplay (en)JSONXML
http://snomed.info/sct  190905008Cystic fibrosis
http://snomed.info/sct  67799006Cystic fibrosis, prenatal detection
http://snomed.info/sct  86964003Cystic fibrosis sweat test
http://snomed.info/sct  444260001Screen for 20 common genetic mutations of cystic fibrosis using amplification refractory mutation system polymerase chain reaction assay technique (procedure)
http://snomed.info/sct  206523001Meconium ileus
http://snomed.info/sct  61919008Giving patient an enema
http://snomed.info/sct  707418001Male infertility due to cystic fibrosis (disorder)
http://snomed.info/sct  707577004Female infertility due to cystic fibrosis (disorder)
http://snomed.info/sct  60151004Neonatal screening
http://snomed.info/sct  734163000Care plan (record artifact)
http://snomed.info/sct  185349003Encounter for check up (procedure)
http://snomed.info/sct  399208008Plain chest X-ray
http://snomed.info/sct  104173009Microbial culture of sputum
http://snomed.info/sct  427089005Diabetes mellitus due to cystic fibrosis (disorder)
http://snomed.info/sct  113076002Glucose tolerance test
http://snomed.info/sct  703040004Agreeing on diabetes care plan (procedure)
http://snomed.info/sct  232657004Single lung transplant
http://snomed.info/sct  82078001Collection of blood specimen for laboratory
http://snomed.info/sct  23426006Measurement of respiratory function
http://snomed.info/sct  11218009Infection caused by Pseudomonas aeruginosa
http://snomed.info/sct  406602003Staphylococcus aureus infection
http://snomed.info/sct  448813005Sepsis caused by Pseudomonas
http://snomed.info/sct  50849002Emergency room admission
http://snomed.info/sct  14152002Intravenous infusion
http://snomed.info/sct  281790008Intravenous antibiotic therapy
http://snomed.info/sct  448417001Sepsis caused by Staphylococcus aureus (disorder)
http://snomed.info/sct  48387007Incision of trachea
http://snomed.info/sct  65710008Acute respiratory failure
http://snomed.info/sct  16602611000119108Awaiting transplantation of lung (situation)
http://www.nlm.nih.gov/research/umls/rxnorm  198767pancreatin 600 MG Oral Tablet
http://www.nlm.nih.gov/research/umls/rxnorm  1243052kalydeco 150 MG Oral Tablet
http://www.nlm.nih.gov/research/umls/rxnorm  205532PULMOZYME 1 MG/ML Inhalation Solution
http://www.nlm.nih.gov/research/umls/rxnorm  166522720 ML ciprofloxacin 10 MG/ML Injection
http://www.nlm.nih.gov/research/umls/rxnorm  313572vancomycin 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