ABCDEFGHIJKLMNO
1
SCTID FSN SemTag
Proximal Primitive Parent
is Intermediate Defn Status
Stated Attributes
Stated Role Groups
Inferred Role Groups
Stated Parents
2
299571003Finding of curly toe (finding)(finding)
404684003 |Clinical finding (finding)|
NoPRIMITIVE001
[SD] 299567001 |Deformity of toe (finding)|
3
20768006Contracture of cervix (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[SD] 63339007 |Disorder of uterine cervix (disorder)|
4
15935061000119100
Acquired overriding toes of left foot (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED722
[P] 64572001 |Disease (disorder)|
5
299330008Knee joint valgus deformity (finding)(finding)
404684003 |Clinical finding (finding)|
NoFULLY_DEFINED211
[P] 404684003 |Clinical finding (finding)|
6
203659007Lordosis in hip disease (disorder)(disorder)
61960001 |Lordosis deformity of spine (disorder)|
YesPRIMITIVE101
[SD] 44950000 |Acquired lordosis (disorder)|
7
239736003Contracture of joint of thumb (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED212
[SD] 86414002 |Contracture of joint of hand (disorder)|
8
239736003Contracture of joint of thumb (disorder)(disorder)
298325004 |Finding of movement (finding)|
NoFULLY_DEFINED212
[SD] 86414002 |Contracture of joint of hand (disorder)|
9
103741000119108
Contracture of joint of finger co-occurrent and due to scar (disorder)
(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
10
203064007Contracture of flexor pollicis longus (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE211
[SD] 55033002 |Muscle contracture (disorder)|
11
1075171000119102
Acquired cavus deformity of right foot (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
12
63783001Brachygnathism (disorder)(disorder)
323351000119108 |Anomaly of jaw size (disorder)|
YesFULLY_DEFINED411
[P] 323351000119108 |Anomaly of jaw size (disorder)|
13
28244003Eversion of lacrimal punctum (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[P] 64572001 |Disease (disorder)|
14
92987006Congenital bent radius (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
15
99751000119103
Acquired deformity of cornea (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
16
58660009Acquired clubhand (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE311
[P] 64572001 |Disease (disorder)|
17
203660002Neuromuscular lordosis (disorder)(disorder)
61960001 |Lordosis deformity of spine (disorder)|
YesPRIMITIVE001
[P] 61960001 |Lordosis deformity of spine (disorder)|
18
209768007Mallet thumb with closed tendon injury (disorder)(disorder)
209767002 |Rupture of extensor pollicis longus (disorder)|
YesFULLY_DEFINED833
[P] 209767002 |Rupture of extensor pollicis longus (disorder)|
19
16856000Longitudinal deficiency of humerus (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
20
15714201000119107
Acquired bilateral claw toe (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED622
[P] 64572001 |Disease (disorder)|
21
53842005Congenital hallux valgus (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED511
[P] 64572001 |Disease (disorder)|
22
275351006Valgus wrist (finding)(finding)
404684003 |Clinical finding (finding)|
NoPRIMITIVE101
[SD] 298945002 |Wrist joint deformity (finding)|
23
253932005Brachysyndactyly of thumb (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED822
[P] 64572001 |Disease (disorder)|
24
62216007
Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder)
(disorder)
236424009 |Acute renal impairment (disorder)|
YesPRIMITIVE003
[SD] 51292008 |Hepatorenal syndrome (disorder)|, [SD] 111246005 |Arthrogryposis (disorder)|, [P] 5655007 |Inherited disorder of bilirubin metabolism (disorder)|, [P] 111941005 |Familial disease (disorder)|
25
62216007
Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder)
(disorder)
202264009 |Contracture of multiple joints (disorder)|
YesPRIMITIVE003
[SD] 51292008 |Hepatorenal syndrome (disorder)|, [SD] 111246005 |Arthrogryposis (disorder)|, [P] 5655007 |Inherited disorder of bilirubin metabolism (disorder)|, [P] 111941005 |Familial disease (disorder)|
26
62216007
Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder)
(disorder)
111941005 |Familial disease (disorder)|
NoPRIMITIVE003
[SD] 51292008 |Hepatorenal syndrome (disorder)|, [SD] 111246005 |Arthrogryposis (disorder)|, [P] 5655007 |Inherited disorder of bilirubin metabolism (disorder)|, [P] 111941005 |Familial disease (disorder)|
27
62216007
Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder)
(disorder)
42399005 |Renal failure syndrome (disorder)|
YesPRIMITIVE003
[SD] 51292008 |Hepatorenal syndrome (disorder)|, [SD] 111246005 |Arthrogryposis (disorder)|, [P] 5655007 |Inherited disorder of bilirubin metabolism (disorder)|, [P] 111941005 |Familial disease (disorder)|
28
62216007
Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder)
(disorder)
5655007 |Inherited disorder of bilirubin metabolism (disorder)|
YesPRIMITIVE003
[SD] 51292008 |Hepatorenal syndrome (disorder)|, [SD] 111246005 |Arthrogryposis (disorder)|, [P] 5655007 |Inherited disorder of bilirubin metabolism (disorder)|, [P] 111941005 |Familial disease (disorder)|
29
62216007
Familial arthrogryposis-cholestatic hepatorenal syndrome (disorder)
(disorder)
59927004 |Hepatic failure (disorder)|
YesPRIMITIVE003
[SD] 51292008 |Hepatorenal syndrome (disorder)|, [SD] 111246005 |Arthrogryposis (disorder)|, [P] 5655007 |Inherited disorder of bilirubin metabolism (disorder)|, [P] 111941005 |Familial disease (disorder)|
30
80969003Postoperative kinking of ureter (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
31
15934581000119101
Acquired calcaneovalgus deformity of bilateral feet (finding)
(finding)
299466008 |Calcaneovalgus deformity of foot (finding)|
YesFULLY_DEFINED722
[P] 299466008 |Calcaneovalgus deformity of foot (finding)|
32
11671000119103
Contracture of bladder neck (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[P] 64572001 |Disease (disorder)|
33
288248009Congenital bowing of tibia/fibula/femur (disorder)(disorder)
253947001 |Congenital leg bone bowing (disorder)|
YesFULLY_DEFINED1233
[P] 253947001 |Congenital leg bone bowing (disorder)|
34
308171000119103
Flexion deformity of finger of left hand (finding)(finding)
404684003 |Clinical finding (finding)|
NoFULLY_DEFINED311
[P] 404684003 |Clinical finding (finding)|
35
1087921000119102
Acquired deformity of left ear (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
36
774124003Acquired deformity of left foot (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
37
268036005Acquired fixed flexion deformity of finger (disorder)(disorder)
281476006 |Acquired fixed flexion deformity of joint of upper limb (disorder)|
YesFULLY_DEFINED311
[P] 281476006 |Acquired fixed flexion deformity of joint of upper limb (disorder)|
38
323401000119101
Acquired valgus deformity of left ankle (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
39
15667841000119106
Congenital deformity of bilateral hip joints (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED822
[P] 64572001 |Disease (disorder)|
40
48008009Manus vara (disorder)(disorder)
16603000 |Talipomanus (disorder)|
YesPRIMITIVE412
[P] 16603000 |Talipomanus (disorder)|
41
427944007Congenital asymmetry of forehead (disorder)(disorder)
15253005 |Facial asymmetry (disorder)|
YesPRIMITIVE001
[P] 15253005 |Facial asymmetry (disorder)|, [SD] 33322003 |Congenital deformity of forehead (disorder)|
42
704028006
Closed mallet fracture of distal phalanx of index finger (disorder)
(disorder)
64298006 |Acquired deformity of finger due to trauma (disorder)|
YesFULLY_DEFINED833
[P] 64298006 |Acquired deformity of finger due to trauma (disorder)|
43
50955006Orbital deformity due to trauma (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[SD] 87540003 |Deformity of orbit proper (disorder)|
44
299237008Hip joint deformity in external rotation (finding)(finding)
404684003 |Clinical finding (finding)|
NoPRIMITIVE001
[SD] 299233007 |Deformity of hip joint (finding)|
45
240232008Acquired deformity of the thumb (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
46
1075311000119108
Plantarflexion deformity of right foot (finding)(finding)
249807007 |Plantarflexion deformity of foot (finding)|
YesFULLY_DEFINED211
[P] 249807007 |Plantarflexion deformity of foot (finding)|
47
28072004Cauliflower ear (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE411
[P] 64572001 |Disease (disorder)|
48
7037003
Xeroderma, talipes and enamel defect syndrome (disorder)
(disorder)
11164009 |Autosomal dominant hereditary disorder (disorder)|
NoPRIMITIVE1134
[P] 11164009 |Autosomal dominant hereditary disorder (disorder)|, [P] 398309008 |Talipes (disorder)|, [P] 52475004 |Xeroderma (disorder)|
49
7037003
Xeroderma, talipes and enamel defect syndrome (disorder)
(disorder)
398309008 |Talipes (disorder)|
YesPRIMITIVE1134
[P] 11164009 |Autosomal dominant hereditary disorder (disorder)|, [P] 398309008 |Talipes (disorder)|, [P] 52475004 |Xeroderma (disorder)|
50
7037003
Xeroderma, talipes and enamel defect syndrome (disorder)
(disorder)
52475004 |Xeroderma (disorder)|
YesPRIMITIVE1134
[P] 11164009 |Autosomal dominant hereditary disorder (disorder)|, [P] 398309008 |Talipes (disorder)|, [P] 52475004 |Xeroderma (disorder)|
51
12235941000119104
Congenital deformity of left foot (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
52
268243008Genu recurvatum and long leg bone bowing (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED822
[P] 64572001 |Disease (disorder)|
53
205073001Congenital complex varus foot deformity (disorder)(disorder)
766243008 |Talipes varus (disorder)|
YesPRIMITIVE102
[SD] 42162004 |Congenital varus deformity of foot (disorder)|
54
203601000Acquired unequal leg length (disorder)(disorder)
45939007 |Leg length inequality (finding)|
YesFULLY_DEFINED311
[P] 300261000119100 |Acquired unequal limb length (disorder)|, [P] 45939007 |Leg length inequality (finding)|
55
203601000Acquired unequal leg length (disorder)(disorder)
300261000119100 |Acquired unequal limb length (disorder)|
YesFULLY_DEFINED311
[P] 300261000119100 |Acquired unequal limb length (disorder)|, [P] 45939007 |Leg length inequality (finding)|
56
12265541000119104
Inversion of bilateral nipples (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED422
[P] 64572001 |Disease (disorder)|
57
112741000119100
Acquired superior sulcus deformity of orbit (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE311
[P] 64572001 |Disease (disorder)|
58
23060008Swan-neck deformity (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED422
[P] 64572001 |Disease (disorder)|
59
253794002Congenital redundant colon (disorder)(disorder)
10331000132107 |Tortuous colon (disorder)|
YesFULLY_DEFINED411
[P] 10331000132107 |Tortuous colon (disorder)|
60
7589002Brachymegalodactyly (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED822
[P] 64572001 |Disease (disorder)|
61
299033004Deformity of hand (finding)(finding)
404684003 |Clinical finding (finding)|
NoFULLY_DEFINED211
[SD] 366546005 |Finding of form of hand (finding)|
62
395693008Congenital positional talipes (disorder)(disorder)
398309008 |Talipes (disorder)|
YesPRIMITIVE622
[P] 398309008 |Talipes (disorder)|
63
448186009Deformity of thoracic structure (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[SD] 118946009 |Disorder of thorax (disorder)|
64
208443000Closed fracture thumb distal phalanx, mallet (disorder)(disorder)
209767002 |Rupture of extensor pollicis longus (disorder)|
YesFULLY_DEFINED833
[P] 209767002 |Rupture of extensor pollicis longus (disorder)|
65
29066007Acquired deformity of elbow (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
66
202278005Radial deviation contracture of the wrist (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE002
[SD] 239735004 |Contracture of wrist joint (disorder)|
67
202278005Radial deviation contracture of the wrist (disorder)(disorder)
298325004 |Finding of movement (finding)|
NoPRIMITIVE002
[SD] 239735004 |Contracture of wrist joint (disorder)|
68
203533003Peroneal spastic flat foot (disorder)(disorder)
90374001 |Acquired spastic flat foot (disorder)|
YesPRIMITIVE002
[P] 90374001 |Acquired spastic flat foot (disorder)|
69
61293001Congenital deformity of knee joint (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
70
2884008Weill-Marchesani syndrome (disorder)(disorder)
4465002 |Spherophakia (disorder)|
YesPRIMITIVE823
[P] 4465002 |Spherophakia (disorder)|
71
232373003Choanal atresia with radial ray hypoplasia (disorder)(disorder)
11164009 |Autosomal dominant hereditary disorder (disorder)|
NoPRIMITIVE1233
[P] 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)|, [P] 11164009 |Autosomal dominant hereditary disorder (disorder)|
72
232373003Choanal atresia with radial ray hypoplasia (disorder)(disorder)
23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)|
YesPRIMITIVE1233
[P] 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)|, [P] 11164009 |Autosomal dominant hereditary disorder (disorder)|
73
45615004Manus cava (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE412
[SD] 66510004 |Congenital anomaly of upper limb (disorder)|
74
20392000Congenital entropion (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[SD] 33168009 |Entropion of eyelid (disorder)|
75
65621006Hyperextension deformity of knee (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE411
[P] 64572001 |Disease (disorder)|
76
72089000Congenital deformity of nose (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
77
240234009Acquired fixed flexion deformity of thumb (disorder)(disorder)
281476006 |Acquired fixed flexion deformity of joint of upper limb (disorder)|
YesFULLY_DEFINED311
[P] 281476006 |Acquired fixed flexion deformity of joint of upper limb (disorder)|
78
330471000119101
Neuromuscular scoliosis co-occurrent and due to cerebral palsy (disorder)
(disorder)
203662005 |Neuromuscular scoliosis (disorder)|
YesFULLY_DEFINED311
[P] 203662005 |Neuromuscular scoliosis (disorder)|, [P] 116223007 |Complication (disorder)|
79
330471000119101
Neuromuscular scoliosis co-occurrent and due to cerebral palsy (disorder)
(disorder)
116223007 |Complication (disorder)|
NoFULLY_DEFINED311
[P] 203662005 |Neuromuscular scoliosis (disorder)|, [P] 116223007 |Complication (disorder)|
80
205349004Brachyphalangia of little toe (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
81
203635002Post-laminectomy lordosis (disorder)(disorder)
116223007 |Complication (disorder)|
NoFULLY_DEFINED101
[SD] 111265002 |Postsurgical lordosis (disorder)|
82
203635002Post-laminectomy lordosis (disorder)(disorder)
362977000 |Sequela (disorder)|
NoFULLY_DEFINED101
[SD] 111265002 |Postsurgical lordosis (disorder)|
83
203635002Post-laminectomy lordosis (disorder)(disorder)
61960001 |Lordosis deformity of spine (disorder)|
YesFULLY_DEFINED101
[SD] 111265002 |Postsurgical lordosis (disorder)|
84
271091009Deformity of phalanx of finger or thumb (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE211
[SD] 271084006 |Deformity of bone (disorder)|
85
298736008Notching of ribs (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE001
[SD] 298735007 |Deformity of rib (disorder)|
86
229844004Deformity of foot (finding)(finding)
404684003 |Clinical finding (finding)|
NoFULLY_DEFINED211
[SD] 366623003 |Finding of form of foot (finding)|
87
299561000Deformity of bone in foot (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[SD] 271084006 |Deformity of bone (disorder)|, [SD] 299558001 |Finding of bone of foot (finding)|
88
445505000Contracture of joint of spine (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED212
[SD] 7890003 |Contracture of joint (disorder)|
89
445505000Contracture of joint of spine (disorder)(disorder)
298325004 |Finding of movement (finding)|
NoFULLY_DEFINED212
[SD] 7890003 |Contracture of joint (disorder)|
90
298396009Deformity of cervical vertebra (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[SD] 271084006 |Deformity of bone (disorder)|
91
162417000Complaining of a deformity (finding)(finding)
404684003 |Clinical finding (finding)|
NoPRIMITIVE100
[SD] 417893002 |Deformity (finding)|
92
51984006Dysmorphic sialidosis, infantile form (disorder)(disorder)
52186006 |Dysmorphic sialidosis (disorder)|
YesPRIMITIVE100
[P] 52186006 |Dysmorphic sialidosis (disorder)|
93
298945002Wrist joint deformity (finding)(finding)
404684003 |Clinical finding (finding)|
NoFULLY_DEFINED211
[SD] 298940007 |Finding of wrist joint (finding)|
94
203555006Extension deformity of finger (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[SD] 128618006 |Disorder of finger (disorder)|
95
733303000Deformity of bony orbit (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED211
[P] 64572001 |Disease (disorder)|
96
86414002Contracture of joint of hand (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED212
[SD] 7890003 |Contracture of joint (disorder)|
97
86414002Contracture of joint of hand (disorder)(disorder)
298325004 |Finding of movement (finding)|
NoFULLY_DEFINED212
[SD] 7890003 |Contracture of joint (disorder)|
98
1075131000119100
Acquired hallux limitus of right great toe (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED311
[P] 64572001 |Disease (disorder)|
99
205063003Congenital genu recurvatum (disorder)(disorder)
64572001 |Disease (disorder)|
NoFULLY_DEFINED411
[P] 64572001 |Disease (disorder)|
100
205315007Clinodactyly with delta phalanx (disorder)(disorder)
64572001 |Disease (disorder)|
NoPRIMITIVE411
[P] 64572001 |Disease (disorder)|