Phenotypes

eMERGE Computable Phenotype Definitions

This page will document our efforts to implement several eMERGE phenotypes. We will use all phenotypes appropriate for implementation in pediatric and adult populations from the eMERGE network's Phenotype KnowledgeBase (n=9). The table below provides an overview of the clinical domains and source vocabularies that are used in each of the phenotypes.

Table 1. eMERGE Phenotype Information

Phenotype	Dx	Rx	Labs	Procs	Problem List	Dx Vocab	Rx Vocab	Lab Vocab	Proc Vocab	Problem List Vocab	NLP Required	Case Definition	Control Definition
ADHD	TRUE	TRUE	FALSE	FALSE	FALSE	ICD9-CM	String	---	---	---	FALSE	TRUE	TRUE
Appendicitis	TRUE	TRUE	FALSE	TRUE	FALSE	ICD9-CM	String	---	CPT	---	FALSE	TRUE	TRUE
Crohn's Disease	TRUE	TRUE	FALSE	FALSE	FALSE	ICD9-CM	String	---	---	---	FALSE	TRUE	TRUE
Hypothyroidism	TRUE	TRUE	TRUE	TRUE	FALSE	ICD9-CM	String	String	CPT	---	FALSE	TRUE	TRUE
Peanut allergy	TRUE	FALSE	TRUE	TRUE	FALSE	String	---	String	String	---	FALSE	TRUE	FALSE
Sickle Cell Disease	TRUE	FALSE	FALSE	FALSE	FALSE	ICD9-CM	---	---	---	---	FALSE	TRUE	FALSE
Sleep Apnea	TRUE	FALSE	FALSE	FALSE	FALSE	ICD9-CM	---	---	---	---	FALSE	TRUE	FALSE
Steroid-Induced Osteonecrosis	TRUE	TRUE	FALSE	TRUE	FALSE	ICD9-CM	String	---	CPT	---	FALSE	TRUE	TRUE
Systemic lupus erythematosus	TRUE	TRUE	TRUE	FALSE	FALSE	ICD9-CM	String	String	---	---	FALSE	TRUE	TRUE

Additional information on the phenotypes listed below can be found within these documents:

• ADHD
• Appendicitis
• Crohn's Disease
• Hypothyroidism
• Peanut Allergy
• Sickle Cell Disease
• Sleep Apnea
• Steroid-Induced Osteonecrosis
• Systemic Lupus Erythematosus