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Table 2 Clinician curated classification categories and examples

From: Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records

Classification

Example lexicon

Terms relating to an ASD diagnosis

Autism, Autistic, PDD-NOS

Pervasive development disorder

ASD, Asperger, syndrome, phenotype

Terms related to ASD diagnostic features found in DSM 4/5, such as social communication impairment, restrictive behaviors, etc.

Language

Toy

Stereotype

Speech

Play

Repetitive

Verbal

Motor

Resist

Communicate

Attention

Deficit

Express

Gaze

Rigid

Social

Develop

Difficult

Interact

Self

Aggress

Behave

Preoccupation

Delay

Contact

Reciprocal

Obsess

 

Ritual

Impair

 

Routine

Inappropriate

 

Sustain

Poor

 

Ability

Inflexible

Terms for behaviors that could be related to or associated with ASD but not found in DSM 4/5

Hand

Neuro

Facial

Toe

Head

Muscle

Eye

Body

Face

Sleep

Arm

Finger

Terms related to non-ASD psychological or neurological diagnoses

Epilepsy, stress, emotional, seizures

Suicide, anger, ADHD, anxiety

Depress, fear, anxious, hyperactive