SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Vertical abnormality_present
Item
Is there a vertical eye movement limitation?
string
C0015413 (UMLS CUI [1,1])
C0449295 (UMLS CUI [1,2])
C0205128 (UMLS CUI [1,3])
Ptosis_present
Item
Is there ptosis or eye-lid drooping?
string
C0033377 (UMLS CUI [1,1])
C0423131 (UMLS CUI [2,1])
Horizontal abnormality_present
Item
Is there a horizontal eye movement limitation?
string
C0015413 (UMLS CUI [1,1])
C0449295 (UMLS CUI [1,2])
C0205126 (UMLS CUI [1,3])
Facial weakness_present
Item
Is there facial weakness?
string
C4073201 (UMLS CUI [1,1])
Hearing impairment_present
Item
Is there hearing impairment?
string
C1384666 (UMLS CUI [1,1])
Lower cranial nerve dysfunction_present
Item
Is there evidence of dysfunction of CN IX, X, XI, XII
string
C3887504 (UMLS CUI [1,1])
C0010268 (UMLS CUI [1,2])
C2348235 (UMLS CUI [1,3])
Craniofacial malformation dysmorphism_present
Item
Is there a malformation or dysmorphism affecting the head or face?
string
C0302142 (UMLS CUI [1,1])
C0596392 (UMLS CUI [1,2])
C0000768 (UMLS CUI [2,1])
C0596392 (UMLS CUI [2,2])
Palatal anomaly_present
Item
Is there cleft lip, palate, high arched palate or bifid uvula?
string
C0008924 (UMLS CUI [1,1])
C0008925 (UMLS CUI [2,1])
C0700374 (UMLS CUI [3,1])
C3553704 (UMLS CUI [3,2])
C4551488 (UMLS CUI [4,1])
Malformation dysmorphism_Other_present
Item
Is there a malformation or dysmorphism affecting anything other than head or face?
string
C0302142 (UMLS CUI [1,1])
C0596392 (UMLS CUI [1,2])
C0000768 (UMLS CUI [2,1])
C0596392 (UMLS CUI [2,2])
Brain Imaging abnormality_ present
Item
Are abnormalities present on brain imaging?
string
C0203860 (UMLS CUI [1,1])
C1704258 (UMLS CUI [1,2])
Cognitive-social-behavioral disability_present
Item
Are symptoms present indicating cognitive, social, or behavioarl dysfunction?
string
C1457887 (UMLS CUI [1,1])
C3887504 (UMLS CUI [1,2])
C1516691 (UMLS CUI [1,3])
C1457887 (UMLS CUI [2,1])
C3887504 (UMLS CUI [2,2])
C0728831 (UMLS CUI [2,3])
C1457887 (UMLS CUI [3,1])
C3887504 (UMLS CUI [3,2])
C0004927 (UMLS CUI [3,3])
Muscle weakness-hypotonia_present
Item
Is there non-facial weakness or hypotonia noted?
string
C0151786 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
C0015450 (UMLS CUI [1,3])
C0020649 (UMLS CUI [2,1])
Scoliosis other core skeletal anomaly_present
Item
Are scoliosis or other core skeletal anomalies present?
string
C0036439 (UMLS CUI [1,1])
C0037253 (UMLS CUI [2,1])
C1704258 (UMLS CUI [2,2])
Limb anomaly_present
Item
Are there limb defects?
string
C0220810 (UMLS CUI [1,1])
C0015385 (UMLS CUI [1,2])
Cardiac anomaly_present
Item
Are cardiac structural or functional symptoms present?
string
C1290384 (UMLS CUI [1,1])
C4062321 (UMLS CUI [2,1])
C0018787 (UMLS CUI [2,2])
GI dysfunction_present
Item
Are GI structural or functional symptoms present?
string
C0012240 (UMLS CUI [1,1])
C0678594 (UMLS CUI [1,2])
C1704258 (UMLS CUI [1,3])
C0012240 (UMLS CUI [2,1])
C0598463 (UMLS CUI [2,2])
Renal-urogenital anomaly_present
Item
Are renal-urogenital structural or functional symptoms present?
string
C0022646 (UMLS CUI [1,1])
C0042066 (UMLS CUI [1,2])
C0678594 (UMLS CUI [1,3])
C1704258 (UMLS CUI [1,4])
C0022646 (UMLS CUI [2,1])
C0042066 (UMLS CUI [2,2])
C0598463 (UMLS CUI [2,3])