Item
Patient siblings with upper limb congenital malformations
integer
C0037047 (UMLS CUI [1,1])
C0749794 (UMLS CUI [1,2])
Code List
Patient siblings with upper limb congenital malformations
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate whether the patient is a twin
integer
C0032989 (UMLS CUI [1])
Code List
Indicate whether the patient is a twin
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Number of Malformed in Multiple Pregnancy
Item
Indicate the number of children with CULA from the same pregnancy
integer
C0449788 (UMLS CUI [1,1])
C0302142 (UMLS CUI [1,2])
C0032989 (UMLS CUI [1,3])
Mother's date of birth
Item
Indicate the mother's date of birth
date
C2599455 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
Item
Indicate whether the patient was conceived through assisted fertilisation
integer
C0521305 (UMLS CUI [1])
Code List
Indicate whether the patient was conceived through assisted fertilisation
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Assisted fertilisation type
Item
Indicate what type of fertilisation the patient was conceived through
text
C0521305 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
Item
Indicate whether the mother is blood-related to the father (1st/2nd degree)
integer
C0009789 (UMLS CUI [1])
Code List
Indicate whether the mother is blood-related to the father (1st/2nd degree)
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate whether the mother was diagnosed with diabetes before pregnancy
integer
C1858460 (UMLS CUI [1,1])
C0011849 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C0032961 (UMLS CUI [1,4])
Code List
Indicate whether the mother was diagnosed with diabetes before pregnancy
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate whether the mother took medication in the first trimester of pregnancy
integer
C0032979 (UMLS CUI [1,1])
C0013227 (UMLS CUI [1,2])
Code List
Indicate whether the mother took medication in the first trimester of pregnancy
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Type of medication taken in first timester
Item
Indicate what type of medication was taken during the first trimester of pregnancy
text
C0032979 (UMLS CUI [1,1])
C0013227 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
Item
Indicate whether alcohol was consumed during the first trimester of pregnancy
integer
C0001948 (UMLS CUI [1,1])
C0032979 (UMLS CUI [1,2])
Code List
Indicate whether alcohol was consumed during the first trimester of pregnancy
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate whether recreational drugs were consumed during the first trimester of pregnancy
integer
C0678263 (UMLS CUI [1,1])
C0032979 (UMLS CUI [1,2])
Code List
Indicate whether recreational drugs were consumed during the first trimester of pregnancy
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate whether the patient has any comorbidities
integer
C0009488 (UMLS CUI [1])
Code List
Indicate whether the patient has any comorbidities
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Comorbidities of paediatric patient: No other disease
Item
Indicate if the patient has any of the following comorbidities 0 = No other diseases
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C1298908 (UMLS CUI [2,1])
C2359476 (UMLS CUI [2,2])
Comorbidities of paediatric patient: Cardiac anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 1 = Cardiac anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C3277906 (UMLS CUI [2])
C0018787 (UMLS CUI [3,1])
C1704258 (UMLS CUI [3,2])
Comorbidities of paediatric patient: GU anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 2 = GU anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0042066 (UMLS CUI [2,1])
C1704258 (UMLS CUI [2,2])
C0042066 (UMLS CUI [3,1])
C3887504 (UMLS CUI [3,2])
Comorbidities of paediatric patient: Developmental delay or learning difficulty
Item
Indicate if the patient has any of the following comorbidities 3 = Developmental delay or learning difficulty
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0424605 (UMLS CUI [2])
C0851265 (UMLS CUI [3])
Comorbidities of paediatric patient: Psychiatric or behavior disorder
Item
Indicate if the patient has any of the following comorbidities 4 = Psychiatric or behavior disorder
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0004936 (UMLS CUI [2])
C0004930 (UMLS CUI [3])
Comorbidities of paediatric patient: Infection or toxin mediated disease
Item
Indicate if the patient has any of the following comorbidities 5 = Infection or toxin mediated disease
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0009450 (UMLS CUI [2])
C0040549 (UMLS CUI [3,1])
C0012634 (UMLS CUI [3,2])
Comorbidities of paediatric patient: GI anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 6 = GI anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0521362 (UMLS CUI [2,1])
C1704258 (UMLS CUI [2,2])
C0521362 (UMLS CUI [3,1])
C3887504 (UMLS CUI [3,2])
Comorbidities of paediatric patient: Other musculoskeletal anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 7 = Other musculoskeletal anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0026860 (UMLS CUI [2,1])
C3887504 (UMLS CUI [2,2])
C0026860 (UMLS CUI [3,1])
C1704258 (UMLS CUI [3,2])
Comorbidities of paediatric patient: Other craniomaxillofacial anomalies
Item
Indicate if the patient has any of the following comorbidities 8 = Other craniomaxillofacial anomalies
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0205394 (UMLS CUI [2,1])
C0037303 (UMLS CUI [2,2])
C0024947 (UMLS CUI [2,3])
C1704258 (UMLS CUI [2,4])
Comorbidities of paediatric patient: Pulmonary anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 9 = Pulmonary anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C2709248 (UMLS CUI [2,1])
C1704258 (UMLS CUI [2,2])
C1709770 (UMLS CUI [3])
Comorbidities of paediatric patient: Hematological anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 10 = Hematological anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0279810 (UMLS CUI [2,1])
C1704258 (UMLS CUI [2,2])
C0279810 (UMLS CUI [3,1])
C3887504 (UMLS CUI [3,2])
Comorbidities of paediatric patient: Immunological anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 11 = Immunological anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0205470 (UMLS CUI [2,1])
C1704258 (UMLS CUI [2,2])
C0205470 (UMLS CUI [3,1])
C3887504 (UMLS CUI [3,2])
Comorbidities of paediatric patient: Neurological anomalies or dysfunction
Item
Indicate if the patient has any of the following comorbidities 12 = Neurological anomalies or dysfunction
boolean
C1521725 (UMLS CUI [1,1])
C0009488 (UMLS CUI [1,2])
C0027853 (UMLS CUI [2,1])
C1704258 (UMLS CUI [2,2])
C0027853 (UMLS CUI [3,1])
C3887504 (UMLS CUI [3,2])
Item
Indicate whether the patient has Apert
integer
C0001193 (UMLS CUI [1])
Code List
Indicate whether the patient has Apert
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate the classificaiton of Apert
integer
C0001193 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Code List
Indicate the classificaiton of Apert
CL Item
Type I (1)
C0332307 (UMLS CUI-1)
C0205447 (UMLS CUI-2)
(Comment:en)
CL Item
Type II (2)
C0332307 (UMLS CUI-1)
C0205448 (UMLS CUI-2)
(Comment:en)
CL Item
Type III (3)
C0332307 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
(Comment:en)
Item
Indicate whether the patient has Constriction Ring
integer
C1534520 (UMLS CUI [1])
Code List
Indicate whether the patient has Constriction Ring
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate the classification of Constriction Ring
integer
C1534520 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Code List
Indicate the classification of Constriction Ring
CL Item
Type I (1)
C0332307 (UMLS CUI-1)
C0205447 (UMLS CUI-2)
(Comment:en)
CL Item
Type II (2)
C0332307 (UMLS CUI-1)
C0205448 (UMLS CUI-2)
(Comment:en)
CL Item
Type III (3)
C0332307 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
(Comment:en)
CL Item
Type IV (4)
C0332307 (UMLS CUI-1)
C0205450 (UMLS CUI-2)
(Comment:en)
Item
Indicate whether the patient has Polydactyly
integer
C0152427 (UMLS CUI [1])
Code List
Indicate whether the patient has Polydactyly
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate the classification of Polydactlyly
integer
C0152427 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Code List
Indicate the classification of Polydactlyly
CL Item
Type I (1)
C0332307 (UMLS CUI-1)
C0205447 (UMLS CUI-2)
(Comment:en)
CL Item
Type II (2)
C0332307 (UMLS CUI-1)
C0205448 (UMLS CUI-2)
(Comment:en)
CL Item
Type III (3)
C0332307 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
(Comment:en)
CL Item
Type IV (4)
C0332307 (UMLS CUI-1)
C0205450 (UMLS CUI-2)
(Comment:en)
CL Item
Type V (5)
C0332307 (UMLS CUI-1)
C0205451 (UMLS CUI-2)
(Comment:en)
CL Item
Type VI (6)
C0332307 (UMLS CUI-1)
C0205452 (UMLS CUI-2)
(Comment:en)
CL Item
Type VII (7)
C0332307 (UMLS CUI-1)
C0205453 (UMLS CUI-2)
(Comment:en)
CL Item
Type VIII (8)
C0332307 (UMLS CUI-1)
C0205454 (UMLS CUI-2)
(Comment:en)
Item
Indicate whether the patient has Ulnar Dysplasia
integer
C0442044 (UMLS CUI [1,1])
C0334044 (UMLS CUI [1,2])
Code List
Indicate whether the patient has Ulnar Dysplasia
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Sub-classification of Ulnar Dysplasia
Item
Indicate whether the patient has Ulnar Dysplasia
integer
C0442044 (UMLS CUI [1,1])
C0334044 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
Item
Indicate whether the patient has Thumb Hypoplasia
integer
C0431890 (UMLS CUI [1])
Code List
Indicate whether the patient has Thumb Hypoplasia
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate whether the patient has Thumb Hypoplasia
integer
C0431890 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Code List
Indicate whether the patient has Thumb Hypoplasia
CL Item
Type I (1)
C0332307 (UMLS CUI-1)
C0205447 (UMLS CUI-2)
(Comment:en)
CL Item
Type II (2)
C0332307 (UMLS CUI-1)
C0205448 (UMLS CUI-2)
(Comment:en)
CL Item
Type III (3)
C0332307 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
(Comment:en)
CL Item
Type IV (4)
C0332307 (UMLS CUI-1)
C0205450 (UMLS CUI-2)
(Comment:en)
CL Item
Type V (5)
C0332307 (UMLS CUI-1)
C0205451 (UMLS CUI-2)
(Comment:en)
Item
Indicate whether the patient has Radial Ray Deficiency
integer
C4228778 (UMLS CUI [1])
Code List
Indicate whether the patient has Radial Ray Deficiency
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate the classification of Radial Ray Deficiency
integer
C4228778 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Code List
Indicate the classification of Radial Ray Deficiency
CL Item
Type I (1)
C0332307 (UMLS CUI-1)
C0205447 (UMLS CUI-2)
(Comment:en)
CL Item
Type II (2)
C0332307 (UMLS CUI-1)
C0205448 (UMLS CUI-2)
(Comment:en)
CL Item
Type III (3)
C0332307 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
(Comment:en)
CL Item
Type IV (4)
C0332307 (UMLS CUI-1)
C0205450 (UMLS CUI-2)
(Comment:en)
Item
Indicate whether the patient has Symbrachydactyly
integer
C0431878 (UMLS CUI [1])
Code List
Indicate whether the patient has Symbrachydactyly
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate the classification of Symbrachydactyly
integer
C0431878 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Code List
Indicate the classification of Symbrachydactyly
CL Item
Type I (1)
C0332307 (UMLS CUI-1)
C0205447 (UMLS CUI-2)
(Comment:en)
CL Item
Type II (2)
C0332307 (UMLS CUI-1)
C0205448 (UMLS CUI-2)
(Comment:en)
CL Item
Type III (3)
C0332307 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
(Comment:en)
CL Item
Type IV (4)
C0332307 (UMLS CUI-1)
C0205450 (UMLS CUI-2)
(Comment:en)
Item
Indicate whether the patient has Cleft Hand
integer
C0265554 (UMLS CUI [1])
Code List
Indicate whether the patient has Cleft Hand
CL Item
No (0)
C1298908 (UMLS CUI-1)
(Comment:en)
CL Item
Yes (1)
C1705108 (UMLS CUI-1)
(Comment:en)
Item
Indicate the classification of Cleft Hand
integer
C0265554 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Code List
Indicate the classification of Cleft Hand
CL Item
Type I (1)
C0332307 (UMLS CUI-1)
C0205447 (UMLS CUI-2)
(Comment:en)
CL Item
Type II (2)
C0332307 (UMLS CUI-1)
C0205448 (UMLS CUI-2)
(Comment:en)
CL Item
Type III (3)
C0332307 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
(Comment:en)
Item
Indicate which side the malformation is
integer
C3166323 (UMLS CUI [1,1])
C0000768 (UMLS CUI [1,2])
C1269078 (UMLS CUI [1,3])
Code List
Indicate which side the malformation is
CL Item
Left (1)
C0205091 (UMLS CUI-1)
(Comment:en)
CL Item
Right (2)
C0205090 (UMLS CUI-1)
(Comment:en)
CL Item
Both (3)
C1706086 (UMLS CUI-1)
(Comment:en)
Item
Indicate the OMT classification
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
Code List
Indicate the OMT classification
CL Item
Malformation (1)
C0679337 (UMLS CUI-1)
(Comment:en)
CL Item
Deformation (2)
C0302142 (UMLS CUI-1)
C4049986 (UMLS CUI-2)
C1821244 (UMLS CUI-3)
(Comment:en)
CL Item
Dysplasia (3)
C3273930 (UMLS CUI-1)
C0020564 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0679337 (UMLS CUI [2,2])
C0205091 (UMLS CUI [2,3])
Code List
Based on OMT classification, please indicate the type of malformation on the left side
CL Item
Abnormal axis formation/Difference: Entire Upper Limb (1)
C0679337 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
C1269078 (UMLS CUI-3)
(Comment:en)
CL Item
Abnormal axis formation/Difference: Hand Plate (2)
C0679337 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
C1512334 (UMLS CUI-3)
(Comment:en)
Item
Based on OMT classification, please indicate the type of malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0679337 (UMLS CUI [2,2])
C0205090 (UMLS CUI [2,3])
Code List
Based on OMT classification, please indicate the type of malformation on the right side
CL Item
Abnormal axis formation/Difference: Entire Upper Limb (1)
C0679337 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
C1269078 (UMLS CUI-3)
(Comment:en)
CL Item
Abnormal axis formation/Difference: Hand Plate (2)
C0679337 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
C1512334 (UMLS CUI-3)
(Comment:en)
Item
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Entire Upper Limb on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0679337 (UMLS CUI [2,2])
C1522496 (UMLS CUI [2,3])
C1269078 (UMLS CUI [2,4])
C0205091 (UMLS CUI [2,5])
Code List
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Entire Upper Limb on the left side
CL Item
Proximal-distal axis (1)
C1160440 (UMLS CUI-1)
(Comment:en)
CL Item
Radial-ulnar axis (2)
C0442038 (UMLS CUI-1)
C0442044 (UMLS CUI-2)
C1522496 (UMLS CUI-3)
(Comment:en)
CL Item
Dorsal-ventral axis (3)
C0205095 (UMLS CUI-1)
C1704448 (UMLS CUI-2)
C1522496 (UMLS CUI-3)
(Comment:en)
CL Item
Unspecified axis (4)
C0205370 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Entire Upper Limb on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0679337 (UMLS CUI [2,2])
C1522496 (UMLS CUI [2,3])
C1269078 (UMLS CUI [2,4])
C0205090 (UMLS CUI [2,5])
Code List
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Entire Upper Limb on the right side
CL Item
Proximal-distal axis (1)
C1160440 (UMLS CUI-1)
(Comment:en)
CL Item
Radial-ulnar axis (2)
C0442038 (UMLS CUI-1)
C0442044 (UMLS CUI-2)
C1522496 (UMLS CUI-3)
(Comment:en)
CL Item
Dorsal-ventral axis (3)
C0205095 (UMLS CUI-1)
C1704448 (UMLS CUI-2)
C1522496 (UMLS CUI-3)
(Comment:en)
CL Item
Unspecified axis (4)
C0205370 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C1160440 (UMLS CUI [3,2])
C0679337 (UMLS CUI [3,3])
C0205091 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the left side
CL Item
Brachymelia with brachydactyly (1)
C0431780 (UMLS CUI-1)
C0221357 (UMLS CUI-2)
(Comment:en)
CL Item
Symbrachydactyly (2)
C0431878 (UMLS CUI-1)
(Comment:en)
CL Item
Transverse deficiency (3)
C0431826 (UMLS CUI-1)
(Comment:en)
CL Item
Intersegmental deficiency (4)
C0239399 (UMLS CUI-1)
C0442059 (UMLS CUI-2)
(Comment:en)
CL Item
Whole limb duplication/triplication (5)
C0431774 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
C1140618 (UMLS CUI-3)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C1160440 (UMLS CUI [3,2])
C0679337 (UMLS CUI [3,3])
C0205090 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the right side
CL Item
Brachymelia with brachydactyly (1)
C0431780 (UMLS CUI-1)
C0221357 (UMLS CUI-2)
(Comment:en)
CL Item
Symbrachydactyly (2)
C0431878 (UMLS CUI-1)
(Comment:en)
CL Item
Transverse deficiency (3)
C0431826 (UMLS CUI-1)
(Comment:en)
CL Item
Intersegmental deficiency (4)
C3846158 (UMLS CUI-1)
C0011155 (UMLS CUI-2)
(Comment:en)
CL Item
Whole limb duplication/triplication (5)
C0431774 (UMLS CUI-1)
C0205449 (UMLS CUI-2)
C1140618 (UMLS CUI-3)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Symbrachydactyly on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0431878 (UMLS CUI [3,2])
C0205091 (UMLS CUI [3,3])
Code List
Based on OMT classification, please indicate the type of Symbrachydactyly on the left side
CL Item
Poland syndrome (1)
C0032357 (UMLS CUI-1)
(Comment:en)
CL Item
Whole limb excluding Poland syndrome (2)
C1269078 (UMLS CUI-1)
C0332300 (UMLS CUI-2)
C0032357 (UMLS CUI-3)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Symbrachydactyly on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0431878 (UMLS CUI [3,2])
C0205090 (UMLS CUI [3,3])
Code List
Based on OMT classification, please indicate the type of Symbrachydactyly on the right side
CL Item
Poland syndrome (1)
C0032357 (UMLS CUI-1)
(Comment:en)
CL Item
Whole limb excluding Poland syndrome (2)
C1269078 (UMLS CUI-1)
C0332300 (UMLS CUI-2)
C0032357 (UMLS CUI-3)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Transverse deficiency on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0431826 (UMLS CUI [3,2])
C0205091 (UMLS CUI [3,3])
Code List
Based on OMT classification, please indicate the type of Transverse deficiency on the left side
CL Item
Amelia (1)
C0002447 (UMLS CUI-1)
(Comment:en)
CL Item
Clavicular/scapular (2)
C0008913 (UMLS CUI-1)
C0036277 (UMLS CUI-2)
(Comment:en)
CL Item
Humeral (3)
C0020164 (UMLS CUI-1)
(Comment:en)
CL Item
Forearm (4)
C0016536 (UMLS CUI-1)
(Comment:en)
CL Item
Wrist (5)
C1322271 (UMLS CUI-1)
(Comment:en)
CL Item
Metacarpal (6)
C0025526 (UMLS CUI-1)
(Comment:en)
CL Item
Phalangeal (7)
C0223792 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Transverse deficiency on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0431826 (UMLS CUI [3,2])
C0205090 (UMLS CUI [3,3])
Code List
Based on OMT classification, please indicate the type of Transverse deficiency on the right side
CL Item
Amelia (1)
C0002447 (UMLS CUI-1)
(Comment:en)
CL Item
Clavicular/scapular (2)
C0008913 (UMLS CUI-1)
C0036277 (UMLS CUI-2)
(Comment:en)
CL Item
Humeral (3)
C0020164 (UMLS CUI-1)
(Comment:en)
CL Item
Forearm (4)
C0016536 (UMLS CUI-1)
(Comment:en)
CL Item
Wrist (5)
C1322271 (UMLS CUI-1)
(Comment:en)
CL Item
Metacarpal (6)
C0025526 (UMLS CUI-1)
(Comment:en)
CL Item
Phalangeal (7)
C0223792 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Intersegmental deficiency on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0239399 (UMLS CUI [3,2])
C0442059 (UMLS CUI [3,3])
C0205091 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Intersegmental deficiency on the left side
CL Item
Proximal (1)
C0205107 (UMLS CUI-1)
(Comment:en)
CL Item
Distal (2)
C0205108 (UMLS CUI-1)
(Comment:en)
CL Item
Total (3)
C0439810 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Intersegmental deficiency on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0239399 (UMLS CUI [3,2])
C0442059 (UMLS CUI [3,3])
C0205090 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Intersegmental deficiency on the right side
CL Item
Proximal (1)
C0205107 (UMLS CUI-1)
(Comment:en)
CL Item
Distal (2)
C0205108 (UMLS CUI-1)
(Comment:en)
CL Item
Total (3)
C0439810 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0442038 (UMLS CUI [3,2])
C0442044 (UMLS CUI [3,3])
C1522496 (UMLS CUI [3,4])
C0011155 (UMLS CUI [3,5])
C0205091 (UMLS CUI [3,6])
Code List
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the left side
CL Item
Radial longitudinal deficiency - Thumb hypoplasia (1)
C0158746 (UMLS CUI-1)
C0431890 (UMLS CUI-2)
(Comment:en)
CL Item
Ulnar longitudinal deficiency (2)
C0158747 (UMLS CUI-1)
(Comment:en)
CL Item
Ulnar dimelia (3)
C0265585 (UMLS CUI-1)
(Comment:en)
CL Item
Radioulnar synostosis (4)
C0158761 (UMLS CUI-1)
(Comment:en)
CL Item
Congenital dislocation of the radial head (5)
C0265563 (UMLS CUI-1)
(Comment:en)
CL Item
Humeroradial synostosis - elbow ankyloses (6)
C1861307 (UMLS CUI-1)
C1368355 (UMLS CUI-2)
C0013769 (UMLS CUI-3)
C0003090 (UMLS CUI-4)
(Comment:en)
CL Item
Madelung deformity (7)
C0152441 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0442038 (UMLS CUI [3,2])
C0442044 (UMLS CUI [3,3])
C1522496 (UMLS CUI [3,4])
C0011155 (UMLS CUI [3,5])
C0205090 (UMLS CUI [3,6])
Code List
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the right side
CL Item
Radial longitudinal deficiency - Thumb hypoplasia (1)
C0158746 (UMLS CUI-1)
C0431890 (UMLS CUI-2)
(Comment:en)
CL Item
Ulnar longitudinal deficiency (2)
C0158747 (UMLS CUI-1)
(Comment:en)
CL Item
Ulnar dimelia (3)
C0265585 (UMLS CUI-1)
(Comment:en)
CL Item
Radioulnar synostosis (4)
C0158761 (UMLS CUI-1)
(Comment:en)
CL Item
Congenital dislocation of the radial head (5)
C0265563 (UMLS CUI-1)
(Comment:en)
CL Item
Humeroradial synostosis - elbow ankyloses (6)
C1861307 (UMLS CUI-1)
C1368355 (UMLS CUI-2)
C0013769 (UMLS CUI-3)
C0003090 (UMLS CUI-4)
(Comment:en)
CL Item
Madelung deformity (7)
C0152441 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0205095 (UMLS CUI [3,2])
C1704448 (UMLS CUI [3,3])
C1522496 (UMLS CUI [3,4])
C0011155 (UMLS CUI [3,5])
C0205091 (UMLS CUI [3,6])
Code List
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the left side
CL Item
Ventral dimelia - Fuhrmann/Al-Awadi/Raas-Rothschild syndromes (1)
C1704448 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C1856728 (UMLS CUI-3)
C1848651 (UMLS CUI-4)
(Comment:en)
CL Item
Ventral dimelia - Nail Patella syndrome (2)
C1704448 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C0027341 (UMLS CUI-3)
(Comment:en)
CL Item
Absent/hypoplastic extensor/flexor muscles (3)
C0332197 (UMLS CUI-1)
C0543481 (UMLS CUI-2)
C0682594 (UMLS CUI-3)
C0332197 (UMLS CUI-4)
C0543481 (UMLS CUI-5)
C0682593 (UMLS CUI-6)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0205095 (UMLS CUI [3,2])
C1704448 (UMLS CUI [3,3])
C1522496 (UMLS CUI [3,4])
C0011155 (UMLS CUI [3,5])
C0205090 (UMLS CUI [3,6])
Code List
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the right side
CL Item
Ventral dimelia - Fuhrmann/Al-Awadi/Raas-Rothschild syndromes (1)
C1704448 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C1856728 (UMLS CUI-3)
C1848651 (UMLS CUI-4)
(Comment:en)
CL Item
Ventral dimelia - Nail Patella syndrome (2)
C1704448 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C0027341 (UMLS CUI-3)
(Comment:en)
CL Item
Absent/hypoplastic extensor/flexor muscles (3)
C0332197 (UMLS CUI-1)
C0543481 (UMLS CUI-2)
C0682594 (UMLS CUI-3)
C0332197 (UMLS CUI-4)
C0543481 (UMLS CUI-5)
C0682593 (UMLS CUI-6)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Unspecified malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0205370 (UMLS CUI [3,2])
C1522496 (UMLS CUI [3,3])
C0011155 (UMLS CUI [3,4])
C0205091 (UMLS CUI [3,5])
Code List
Based on OMT classification, please indicate the type of Unspecified malformation on the left side
CL Item
Shoulder - Undescended (Sprengel) (1)
C0037004 (UMLS CUI-1)
C1409965 (UMLS CUI-2)
(Comment:en)
CL Item
Shoulder - Abnormal shoulder muscles (2)
C0205161 (UMLS CUI-1)
C0037004 (UMLS CUI-2)
C0026845 (UMLS CUI-3)
(Comment:en)
CL Item
Shoulder - Not otherwise specified (3)
C0037004 (UMLS CUI-1)
C1518425 (UMLS CUI-2)
(Comment:en)
CL Item
Arthrogryposis (4)
C0003886 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Unspecified malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C1269078 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0205370 (UMLS CUI [3,2])
C1522496 (UMLS CUI [3,3])
C0011155 (UMLS CUI [3,4])
C0205090 (UMLS CUI [3,5])
Code List
Based on OMT classification, please indicate the type of Unspecified malformation on the right side
CL Item
Shoulder - Undescended (Sprengel) (1)
C0037004 (UMLS CUI-1)
C1409965 (UMLS CUI-2)
(Comment:en)
CL Item
Shoulder - Abnormal shoulder muscles (2)
C0205161 (UMLS CUI-1)
C0037004 (UMLS CUI-2)
C0026845 (UMLS CUI-3)
(Comment:en)
CL Item
Shoulder - Not otherwise specified (3)
C0037004 (UMLS CUI-1)
C1518425 (UMLS CUI-2)
(Comment:en)
CL Item
Arthrogryposis (4)
C0003886 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Hand Plate on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0018563 (UMLS CUI [2,2])
C0011155 (UMLS CUI [2,3])
C0205091 (UMLS CUI [2,4])
Code List
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Hand Plate on the left side
CL Item
Proximal-distal axis (1)
C1160440 (UMLS CUI-1)
(Comment:en)
CL Item
Radial-ulnar axis (2)
C0442038 (UMLS CUI-1)
C0442044 (UMLS CUI-2)
C1522496 (UMLS CUI-3)
(Comment:en)
CL Item
Dorsal-ventral axis (3)
C1160432 (UMLS CUI-1)
(Comment:en)
CL Item
Unspecified axis (4)
C0205370 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Hand Plate on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0018563 (UMLS CUI [2,2])
C0011155 (UMLS CUI [2,3])
C0205090 (UMLS CUI [2,4])
Code List
Based on OMT classification, please indicate the type of abnormal axis formation/difference: Hand Plate on the right side
CL Item
Proximal-distal axis (1)
C1160440 (UMLS CUI-1)
(Comment:en)
CL Item
Radial-ulnar axis (2)
C0442038 (UMLS CUI-1)
C0442044 (UMLS CUI-2)
C1522496 (UMLS CUI-3)
(Comment:en)
CL Item
Dorsal-ventral axis (3)
C1160432 (UMLS CUI-1)
(Comment:en)
CL Item
Unspecified axis (4)
C0205370 (UMLS CUI-1)
C1522496 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C1160440 (UMLS CUI [3,2])
C0011155 (UMLS CUI [3,3])
C0205091 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the left side
CL Item
Brachydactyly (1)
C0221357 (UMLS CUI-1)
(Comment:en)
CL Item
Symbrachydactyly (2)
C0431878 (UMLS CUI-1)
(Comment:en)
CL Item
Transverse deficiency - Wrist (3)
C0431826 (UMLS CUI-1)
C0043262 (UMLS CUI-2)
(Comment:en)
CL Item
Transverse deficiency - Metacarpal (4)
C0431826 (UMLS CUI-1)
C0025526 (UMLS CUI-2)
(Comment:en)
CL Item
Transverse deficiency - Phalangeal (5)
C0431826 (UMLS CUI-1)
C0223792 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C1160440 (UMLS CUI [3,2])
C0011155 (UMLS CUI [3,3])
C0205090 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Proximal-distal axis malformation on the right side
CL Item
Brachydactyly (1)
C0221357 (UMLS CUI-1)
(Comment:en)
CL Item
Symbrachydactyly (2)
C0431878 (UMLS CUI-1)
(Comment:en)
CL Item
Transverse deficiency - Wrist (3)
C0431826 (UMLS CUI-1)
C0043262 (UMLS CUI-2)
(Comment:en)
CL Item
Transverse deficiency - Metacarpal (4)
C0431826 (UMLS CUI-1)
C0025526 (UMLS CUI-2)
(Comment:en)
CL Item
Transverse deficiency - Phalangeal (5)
C0431826 (UMLS CUI-1)
C0223792 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0442038 (UMLS CUI [3,2])
C0442044 (UMLS CUI [3,3])
C1522496 (UMLS CUI [3,4])
C0011155 (UMLS CUI [3,5])
C0205091 (UMLS CUI [3,6])
Code List
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the left side
CL Item
Radial deficiency (1)
C0442038 (UMLS CUI-1)
C1704258 (UMLS CUI-2)
(Comment:en)
CL Item
Ulnar deficiency (2)
C0442044 (UMLS CUI-1)
C1704258 (UMLS CUI-2)
(Comment:en)
CL Item
Radial polydactyly (3)
C0442038 (UMLS CUI-1)
C0152427 (UMLS CUI-2)
(Comment:en)
CL Item
Triphalangeal thumb (4)
C0241397 (UMLS CUI-1)
(Comment:en)
CL Item
Ulnar dimelia (5)
C0265585 (UMLS CUI-1)
(Comment:en)
CL Item
Ulnar polydactyly (6)
C0442044 (UMLS CUI-1)
C0152427 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0442038 (UMLS CUI [3,2])
C0442044 (UMLS CUI [3,3])
C1522496 (UMLS CUI [3,4])
C0011155 (UMLS CUI [3,5])
C0205090 (UMLS CUI [3,6])
Code List
Based on OMT classification, please indicate the type of Radial-ulnar axis malformation on the right side
CL Item
Radial deficiency (1)
C0442038 (UMLS CUI-1)
C1704258 (UMLS CUI-2)
(Comment:en)
CL Item
Ulnar deficiency (2)
C1290461 (UMLS CUI-1)
(Comment:en)
CL Item
Radial polydactyly (3)
C0442038 (UMLS CUI-1)
C0152427 (UMLS CUI-2)
(Comment:en)
CL Item
Triphalangeal thumb (4)
C0241397 (UMLS CUI-1)
(Comment:en)
CL Item
Ulnar dimelia (5)
C0265585 (UMLS CUI-1)
(Comment:en)
CL Item
Ulnar polydactyly (6)
C0442044 (UMLS CUI-1)
C0152427 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C1160432 (UMLS CUI [3,2])
C0011155 (UMLS CUI [3,3])
C0205091 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the left side
CL Item
Dorsal dimelia (palmar nail) (1)
C0205095 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C1184147 (UMLS CUI-3)
C0027342 (UMLS CUI-4)
(Comment:en)
CL Item
Ventral (palmar) dimelia (including hypoplastic/aplastic nail) (2)
C1704448 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C0332257 (UMLS CUI-3)
C0263523 (UMLS CUI-4)
C0265998 (UMLS CUI-5)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C1160432 (UMLS CUI [3,2])
C0011155 (UMLS CUI [3,3])
C0205090 (UMLS CUI [3,4])
Code List
Based on OMT classification, please indicate the type of Dorsal-ventral axis malformation on the right side
CL Item
Dorsal dimelia (palmar nail) (1)
C0205095 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C1184147 (UMLS CUI-3)
C0027342 (UMLS CUI-4)
(Comment:en)
CL Item
Ventral (palmar) dimelia (including hypoplastic/aplastic nail) (2)
C1704448 (UMLS CUI-1)
C0265551 (UMLS CUI-2)
C0332257 (UMLS CUI-3)
C0263523 (UMLS CUI-4)
C0265998 (UMLS CUI-5)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Unspecified axis malformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0205370 (UMLS CUI [3,2])
C1522496 (UMLS CUI [3,3])
C0011155 (UMLS CUI [3,4])
C0205091 (UMLS CUI [3,5])
Code List
Based on OMT classification, please indicate the type of Unspecified axis malformation on the left side
CL Item
Soft tissue - Syndactyly (1)
C0225317 (UMLS CUI-1)
C0039075 (UMLS CUI-2)
(Comment:en)
CL Item
Soft tissue - Camptodactyly (2)
C0225317 (UMLS CUI-1)
C0685409 (UMLS CUI-2)
(Comment:en)
CL Item
Soft tissue - Thumb in palm deformity (3)
C0225317 (UMLS CUI-1)
C0431886 (UMLS CUI-2)
(Comment:en)
CL Item
Soft tissue - Distal arthrogryposis (4)
C0225317 (UMLS CUI-1)
C0205108 (UMLS CUI-2)
C0003886 (UMLS CUI-3)
(Comment:en)
CL Item
Skeletal deficiency - Clinodactyly (5)
C0037253 (UMLS CUI-1)
C0011155 (UMLS CUI-2)
C4551485 (UMLS CUI-3)
(Comment:en)
CL Item
Skeletal deficiency - Kirner's deformity (6)
C0037253 (UMLS CUI-1)
C0011155 (UMLS CUI-2)
C1851955 (UMLS CUI-3)
(Comment:en)
CL Item
Skeletal deficiency - Synostosis/symphalangism (7)
C0037253 (UMLS CUI-1)
C0011155 (UMLS CUI-2)
C0391889 (UMLS CUI-3)
(Comment:en)
CL Item
Complex - Complex syndactyly (8)
C0439855 (UMLS CUI-1)
C0039075 (UMLS CUI-2)
(Comment:en)
CL Item
Complex - Synpolydactyly - central (9)
C0439855 (UMLS CUI-1)
C0039075 (UMLS CUI-2)
C0205099 (UMLS CUI-3)
(Comment:en)
CL Item
Complex - Cleft hand (10)
C0439855 (UMLS CUI-1)
C0265554 (UMLS CUI-2)
(Comment:en)
CL Item
Complex - Apert hand (11)
C0439855 (UMLS CUI-1)
C0001193 (UMLS CUI-2)
C0018563 (UMLS CUI-3)
(Comment:en)
CL Item
Complex - Not otherwise specified (12)
C0439855 (UMLS CUI-1)
C1518425 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Unspecified axis malformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0018563 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C0205370 (UMLS CUI [3,2])
C1522496 (UMLS CUI [3,3])
C0011155 (UMLS CUI [3,4])
C0205090 (UMLS CUI [3,5])
Code List
Based on OMT classification, please indicate the type of Unspecified axis malformation on the right side
CL Item
Soft tissue - Syndactyly (1)
C0225317 (UMLS CUI-1)
C0039075 (UMLS CUI-2)
(Comment:en)
CL Item
Soft tissue - Camptodactyly (2)
C0225317 (UMLS CUI-1)
C0685409 (UMLS CUI-2)
(Comment:en)
CL Item
Soft tissue - Thumb in palm deformity (3)
C0225317 (UMLS CUI-1)
C0431886 (UMLS CUI-2)
(Comment:en)
CL Item
Soft tissue - Distal arthrogryposis (4)
C0225317 (UMLS CUI-1)
C0205108 (UMLS CUI-2)
C0003886 (UMLS CUI-3)
(Comment:en)
CL Item
Skeletal deficiency - Clinodactyly (5)
C0037253 (UMLS CUI-1)
C0011155 (UMLS CUI-2)
C4551485 (UMLS CUI-3)
(Comment:en)
CL Item
Skeletal deficiency - Kirner's deformity (6)
C0037253 (UMLS CUI-1)
C0011155 (UMLS CUI-2)
C1851955 (UMLS CUI-3)
(Comment:en)
CL Item
Skeletal deficiency - Synostosis/symphalangism (7)
C0037253 (UMLS CUI-1)
C0011155 (UMLS CUI-2)
C0391889 (UMLS CUI-3)
(Comment:en)
CL Item
Complex - Complex syndactyly (8)
C0439855 (UMLS CUI-1)
C0039075 (UMLS CUI-2)
(Comment:en)
CL Item
Complex - Synpolydactyly - central (9)
C0439855 (UMLS CUI-1)
C0039075 (UMLS CUI-2)
C0205099 (UMLS CUI-3)
(Comment:en)
CL Item
Complex - Cleft hand (10)
C0439855 (UMLS CUI-1)
C0431871 (UMLS CUI-2)
(Comment:en)
CL Item
Complex - Apert hand (11)
C0439855 (UMLS CUI-1)
C0001193 (UMLS CUI-2)
C0018563 (UMLS CUI-3)
(Comment:en)
CL Item
Complex - Not otherwise specified (12)
C0439855 (UMLS CUI-1)
C1518425 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of deformation on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0302142 (UMLS CUI [2,2])
C4049986 (UMLS CUI [2,3])
C1821244 (UMLS CUI [2,4])
C0205091 (UMLS CUI [2,5])
Code List
Based on OMT classification, please indicate the type of deformation on the left side
CL Item
Constriction ring sequence (1)
C0002636 (UMLS CUI-1)
(Comment:en)
CL Item
Trigger digits (2)
C0410059 (UMLS CUI-1)
(Comment:en)
CL Item
Not otherwise specified (3)
C1518425 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of deformation on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C0302142 (UMLS CUI [2,2])
C4049986 (UMLS CUI [2,3])
C1821244 (UMLS CUI [2,4])
C0205090 (UMLS CUI [2,5])
Code List
Based on OMT classification, please indicate the type of deformation on the right side
CL Item
Constriction ring sequence (1)
C0002636 (UMLS CUI-1)
(Comment:en)
CL Item
Trigger digits (2)
C0410059 (UMLS CUI-1)
(Comment:en)
CL Item
Not otherwise specified (3)
C1518425 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of dysplasia on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C3273930 (UMLS CUI [2,2])
C0020564 (UMLS CUI [2,3])
C0205091 (UMLS CUI [2,4])
Code List
Based on OMT classification, please indicate the type of dysplasia on the left side
CL Item
Hypertrophy (1)
C0020564 (UMLS CUI-1)
(Comment:en)
CL Item
Tumorous conditions (2)
C3273930 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the type of dysplasia on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0332307 (UMLS CUI [2,1])
C3273930 (UMLS CUI [2,2])
C0020564 (UMLS CUI [2,3])
C0205090 (UMLS CUI [2,4])
Code List
Based on OMT classification, please indicate the type of dysplasia on the right side
CL Item
Hypertrophy (1)
C0020564 (UMLS CUI-1)
(Comment:en)
CL Item
Tumorous conditions (2)
C3273930 (UMLS CUI-1)
(Comment:en)
Item
Based on OMT classification, please indicate the Hypertrophy on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0334044 (UMLS CUI [2])
C0020564 (UMLS CUI [3,1])
C0205091 (UMLS CUI [3,2])
Code List
Based on OMT classification, please indicate the Hypertrophy on the left side
CL Item
Whole limb - Hemihypertrophy (1)
C1269078 (UMLS CUI-1)
C0332890 (UMLS CUI-2)
(Comment:en)
CL Item
Whole limb - Aberrant flexor/extensor/intrinsic muscles (2)
C1269078 (UMLS CUI-1)
C0443127 (UMLS CUI-2)
C0205102 (UMLS CUI-3)
C0026845 (UMLS CUI-4)
C0682593 (UMLS CUI-5)
C0682594 (UMLS CUI-6)
(Comment:en)
CL Item
Partial limb - Macrodactyly (3)
C0728938 (UMLS CUI-1)
C1140618 (UMLS CUI-2)
C0265552 (UMLS CUI-3)
(Comment:en)
CL Item
Partial limb - Aberrant intrinsic muscles of hand (4)
C0728938 (UMLS CUI-1)
C1140618 (UMLS CUI-2)
C0443127 (UMLS CUI-3)
C0448447 (UMLS CUI-4)
(Comment:en)
Item
Based on OMT classification, please indicate the Hypertrophy on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0334044 (UMLS CUI [2])
C0020564 (UMLS CUI [3,1])
C0205090 (UMLS CUI [3,2])
Code List
Based on OMT classification, please indicate the Hypertrophy on the right side
CL Item
Whole limb - Hemihypertrophy (1)
C1269078 (UMLS CUI-1)
C0332890 (UMLS CUI-2)
(Comment:en)
CL Item
Whole limb - Aberrant flexor/extensor/intrinsic muscles (2)
C1269078 (UMLS CUI-1)
C0443127 (UMLS CUI-2)
C0205102 (UMLS CUI-3)
C0026845 (UMLS CUI-4)
C0682593 (UMLS CUI-5)
C0682594 (UMLS CUI-6)
(Comment:en)
CL Item
Partial limb - Macrodactyly (3)
C0728938 (UMLS CUI-1)
C1140618 (UMLS CUI-2)
C0265552 (UMLS CUI-3)
(Comment:en)
CL Item
Partial limb - Aberrant intrinsic muscles of hand (4)
C0728938 (UMLS CUI-1)
C1140618 (UMLS CUI-2)
C0443127 (UMLS CUI-3)
C0448447 (UMLS CUI-4)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Tumourous conditions on the left side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0334044 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C3273930 (UMLS CUI [3,2])
C0205091 (UMLS CUI [3,3])
Code List
Based on OMT classification, please indicate the type of Tumourous conditions on the left side
CL Item
Vascular - Hemangioma (1)
C1801960 (UMLS CUI-1)
C0018916 (UMLS CUI-2)
(Comment:en)
CL Item
Vascular - Malformation (2)
C1801960 (UMLS CUI-1)
C0302142 (UMLS CUI-2)
(Comment:en)
CL Item
Vascular - Others (3)
C1801960 (UMLS CUI-1)
C0205394 (UMLS CUI-2)
(Comment:en)
CL Item
Neurological - Neurofibromatosis (4)
C0027766 (UMLS CUI-1)
C0162678 (UMLS CUI-2)
(Comment:en)
CL Item
Neurological - Others (5)
C0027766 (UMLS CUI-1)
C0205394 (UMLS CUI-2)
(Comment:en)
CL Item
Connective tissue - Juvenile aponeurotic fibroma (6)
C0009780 (UMLS CUI-1)
C0553647 (UMLS CUI-2)
(Comment:en)
CL Item
Connective tissue - Infantile digital fibroma (7)
C0009780 (UMLS CUI-1)
C1318562 (UMLS CUI-2)
(Comment:en)
CL Item
Connective tissue - Others (8)
C0009780 (UMLS CUI-1)
C0205394 (UMLS CUI-2)
(Comment:en)
Item
Based on OMT classification, please indicate the type of Tumourous conditions on the right side
integer
C0000768 (UMLS CUI [1,1])
C1269078 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
C0334044 (UMLS CUI [2])
C0332307 (UMLS CUI [3,1])
C3273930 (UMLS CUI [3,2])
C0205090 (UMLS CUI [3,3])
Code List
Based on OMT classification, please indicate the type of Tumourous conditions on the right side
CL Item
Vascular - Hemangioma (1)
C1801960 (UMLS CUI-1)
C0018916 (UMLS CUI-2)
(Comment:en)
CL Item
Vascular - Malformation (2)
C1801960 (UMLS CUI-1)
C0302142 (UMLS CUI-2)
(Comment:en)
CL Item
Vascular - Others (3)
C1801960 (UMLS CUI-1)
C0205394 (UMLS CUI-2)
(Comment:en)
CL Item
Neurological - Neurofibromatosis (4)
C0027766 (UMLS CUI-1)
C0162678 (UMLS CUI-2)
(Comment:en)
CL Item
Neurological - Others (5)
C0027766 (UMLS CUI-1)
C0205394 (UMLS CUI-2)
(Comment:en)
CL Item
Connective tissue - Juvenile aponeurotic fibroma (6)
C0009780 (UMLS CUI-1)
C0553647 (UMLS CUI-2)
(Comment:en)
CL Item
Connective tissue - Infantile digital fibroma (7)
C0009780 (UMLS CUI-1)
C1318562 (UMLS CUI-2)
(Comment:en)
CL Item
Connective tissue - Others (8)
C0009780 (UMLS CUI-1)
C0205394 (UMLS CUI-2)
(Comment:en)