/phekb-phenotypes

A selection of PheKB phenotypes represented using CQL and FHIR.

Primary LanguageJavaScript

PheKB Phenotypes

PhEMA DOI

Collection of PheKB phenotypes translated as part of the PhEMA phenotype variability project.

Brandt PS, Pacheco JA, Rasmussen LV. Development of a repository of computable phenotype definitions 
using the clinical quality language. JAMIA Open. 2021 Dec 3;4(4):ooab094. 
doi: 10.1093/jamiaopen/ooab094. PMID: 34926996; PMCID: PMC8672934.

☝️ citation

Overview

This repo consists of the following parts.

CQL to ELM Translator

A compiled version of the cql-to-elm translator is in the tools directory. This is necessary because the testing framework used only works with ELM and not directly with CQL.

Value Set Cache Builder

There is a small script in the scripts directory that creates a cache from ValueSet resources (in phenotype valuesets directories) in the format expected by the testing framework.

PheKB Phenotypes

The translated phenotypes are in the phenotypes directory. Each phenotype consists of a CQL file and a collection of FHIR ValueSet resources.

Test Cases

Inside each phenotype directory there is a test folder, which contains the test configuration (cqlt.yaml) and a set of tests cases (in the cases directory). The test are executed using AHRQ's CQL Testing Framework.

Running The Tests

Prerequisites

  • Java 11+
  • NodeJS 14+

First install the dependencies:

yarn install

Then run the tests:

yarn test

Phenotype List

# id slug Translated By Validated By Status
1 8 cardiac-conduction-qrs Pascal Luke ✅ Done
2 9 cataracts Luke Pascal ✅ Done
3 12 high-density-lipoproteins-hdl Pascal Luke ✅ Done
4 13 height Pascal Luke ✅ Done
5 14 hypothyroidism Luke Pascal ✅ Done
6 15 lipids Luke Pascal ✅ Done
7 16 peripheral-arterial-disease-2012 Luke Pascal ✅ Done
8 17 red-blood-cell-indices Pascal Luke ✅ Done
9 18 type-2-diabetes-mellitus Luke Pascal ✅ Done
10 19 white-blood-cell-indices Pascal Luke ✅ Done
11 68 resistant-hypertension Pascal Luke ✅ Done
12 73 type-2-diabetes-demonstration-project Pascal Luke ✅ Done
13 74 rheumatoid-arthritis-demonstration-project Pascal Luke ✅ Done
14 76 multiple-sclerosis-demonstration-project Pascal Luke ✅ Done
15 77 crohns-disease-demonstration-project Pascal Luke ✅ Done
16 78 atrial-fibrillation-demonstration-project Pascal Luke ✅ Done
17 88 clopidogrel-poor-metabolizers Pascal Luke ✅ Done
18 112 herpes-zoster Pascal Luke ✅ Done
19 115 asthma-response-to-inhaled-steroids Pascal Luke ✅ Done
20 135 drug-induced-liver-injury Luke Pascal ✅ Done
21 155 steroid-induced-osteonecrosis Pascal Luke ✅ Done
22 156 warfarin-doseresponse Pascal Luke ✅ Done
23 162 autism Pascal Luke ✅ Done
24 170 statins-and-mace Pascal Luke ✅ Done
25 602 familial-hypercholesterolemia Pascal Luke ✅ Done
26 615 sickle-cell-disease Pascal Luke ✅ Done
27 797 developmental-language-disorder Pascal Luke ✅ Done
28 1053 multimodal-analgesia Pascal Luke ✅ Done
29 1058 systemic-lupus-erythematosus-sle Pascal Luke ✅ Done
30 1070 phema-bph-benign-prostatic-hyperplasia-cases Pascal Luke ✅ Done
31 1205 digital-rectal-exam Luke Pascal ✅ Done
32 1404 urinary-incontinence Luke Pascal ✅ Done
33 1197 bone-scan-utilization Luke Pascal ✅ Done