22q11 Deletion Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
31
2
0.320
None
1.000
2
1999
2001
22q11 partial monosomy syndrome
disease
Disease or Syndrome
12
0.300
None
0
Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
0.100
None
0
Abnormality of aortic arch
disease
Finding
13
1
0.100
None
0
Abnormality of aortic valve
disease
Anatomical Abnormality
50
2
0.100
None
0
Abnormality of dental enamel
group
Anatomical Abnormality
96
4
0.100
None
0
Abnormality of pulmonary valve
disease
Finding
40
0.100
None
0
Abnormality of the pharynx
disease
Anatomical Abnormality
23
0.100
None
0
Abnormality of the thorax
disease
Anatomical Abnormality
40
5
0.100
None
0
Abnormality of the tonsils
disease
Anatomical Abnormality
12
1
0.100
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0
Acrocephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
35
0.100
None
0
Anus, Imperforate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Congenital Abnormality
139
9
0.100
None
0
Anxiety
disease
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
1048
287
0.100
None
0
Arachnodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
102
25
0.100
None
0
Arhinencephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
35
0.100
None
0
Arthritis
disease
Musculoskeletal Diseases
Disease or Syndrome
1072
69
0.100
None
0
Asthma
disease
Respiratory Tract Diseases; Immune System Diseases
Disease or Syndrome
2096
1536
0.100
None
0
Asymmetric crying face association
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
Disease or Syndrome
25
2
0.300
None
0
Atelectasis
phenotype
Respiratory Tract Diseases
Pathologic Function
62
2
0.100
None
0
Atrial Septal Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
384
96
0.100
None
0
Attention deficit hyperactivity disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
842
420
0.100
None
0
Autistic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1112
395
0.100
None
0
Autoimmune state
phenotype
Pathologic Function
70
0.100
None
0
Bipolar Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1183
839
0.100
None
0