Table 3.

Cumulative patient profile search terms for identification individuals with NF1 from EMR database

Search inclusion terms	Selected exclusion terms
‘NF1', 'NF1', 1	‘negative for' or ‘no evidence’ or ‘no history of'
'NF1[^a-z0-9]%', 1	‘at risk of’ ‘?early’
'NF1', '%[^a-z0-9]NF1', 1	'family history of' or 'FMHx' or ‘fhx’
'NF1', '%[^a-z0-9]NF1[^a-z0-9]%', 1	'without' ‘with out'
'recklinghausen', '%recklinghausen%', 1	‘maternal’ or ‘paternal’ or ‘brother’ or ‘sister’
'neurofibromatosis', '%neurofibr_m_tos_s%', 1	'unconfirmed' 'suspect'
'neurofibromatosis', '%Neuro Fibromatosis%', 1	'rule out' or 'r/ o' or 'r/o'
'neurofibromatosis', '%Neurofibiromatosis%', 1	‘possible’ or ‘possibly’ or ‘probable’
'neurofibromatosis', '%neurofibomatosis%', 1	‘NF2’