Q00-Q99 XVII Congenital malformations, deformations and chromosomal abnormalities |
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Males |
70 |
32 |
1 |
2 |
- |
3 |
2 |
1 |
2 |
- |
4 |
2 |
1 |
6 |
5 |
2 |
3 |
2 |
1 |
1 |
- |
Females |
64 |
24 |
3 |
- |
1 |
- |
1 |
2 |
- |
2 |
2 |
3 |
2 |
3 |
11 |
3 |
1 |
1 |
3 |
2 |
- |
Q00-Q07 Congenital malformations of the nervous system |
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Males |
5 |
3 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
1 |
- |
- |
- |
Females |
8 |
4 |
1 |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
1 |
1 |
- |
- |
- |
- |
- |
- |
Q02 Microcephaly |
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Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q039 Congenital hydrocephalus, unspecified |
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Females |
2 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
- |
- |
- |
- |
- |
- |
Q042 Holoprosencephaly |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q043 Other reduction deformities of brain |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q049 Congenital malformation of brain, unspecified |
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Males |
3 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
1 |
- |
- |
- |
Females |
2 |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q054 Unspecified spina bifida with hydrocephalus |
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Females |
2 |
1 |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q20-Q28 Congenital malformations of the circulatory system |
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Males |
18 |
8 |
- |
- |
- |
2 |
2 |
1 |
2 |
- |
2 |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
Females |
23 |
9 |
2 |
- |
- |
- |
1 |
- |
- |
1 |
2 |
2 |
- |
1 |
2 |
1 |
- |
- |
1 |
1 |
- |
VSD][Q210 Ventricular septal defect |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
2 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ASD][Q211 Atrial septal defect |
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Males |
1 |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q212 Atrioventricular septal defect |
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Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q213 Tetralogy of Fallot |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q218 Other congenital malformations of cardiac septa |
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Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
Q220 Pulmonary valve atresia |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q225 Ebstein's anomaly |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q226 Hypoplastic right heart syndrome |
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Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q230 Congenital stenosis of aortic valve |
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Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
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- |
- |
- |
- |
Q231 Congenital insufficiency of aortic valve |
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Males |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q234 Hypoplastic left heart syndrome |
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Males |
4 |
3 |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
5 |
4 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q248 Other specified congenital malformations of heart |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q249 Congenital malformation of heart, unspecified |
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Males |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
6 |
- |
- |
- |
- |
- |
1 |
- |
- |
1 |
- |
1 |
- |
- |
- |
1 |
- |
- |
1 |
1 |
- |
Q250 Patent ductus arteriosus |
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Males |
1 |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q254 Other congenital malformations of aorta |
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Males |
1 |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q256 Stenosis of pulmonary artery |
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Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
Q257 Other congenital malformations of pulmonary artery |
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Males |
1 |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
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Q259 Congenital malformation of great arteries, unspecified |
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Males |
1 |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q280 Arteriovenous malformation of precerebral vessels |
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Males |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
Females |
2 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
Q282 Arteriovenous malformation of cerebral vessels |
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Males |
1 |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q38-Q45 Other congenital malformations of the digestive system |
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Males |
2 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q390 Atresia of oesophagus without fistula |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q446 Cystic disease of liver |
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Males |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
Q60-Q64 Congenital malformations of the urinary system |
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Males |
6 |
2 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
1 |
1 |
1 |
- |
Females |
6 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
1 |
1 |
1 |
1 |
- |
Q613 Polycystic kidney, unspecified |
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Males |
3 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
1 |
1 |
- |
Females |
4 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
1 |
- |
1 |
1 |
- |
Q614 Renal dysplasia |
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Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q619 Cystic kidney disease, unspecified |
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Males |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
Q642 Congenital posterior urethral valves |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q649 Congenital malformation of urinary system, unspecified |
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Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system |
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Males |
8 |
7 |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q763 Congenital scoliosis due to congenital bony malformation |
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Males |
1 |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q790 Congenital diaphragmatic hernia |
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|
|
|
|
|
|
|
|
|
|
|
Males |
6 |
6 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q793 Gastroschisis |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q80-Q89 Other congenital malformations |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
7 |
4 |
- |
1 |
- |
1 |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
8 |
4 |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
1 |
- |
1 |
- |
- |
- |
1 |
- |
- |
Q828 Other specified congenital malformations of skin |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
Q850 Neurofibromatosis (nonmalignant) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
2 |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
Q858 Other phakomatoses, not elsewhere classified |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
Q871 Congenital malformation syndromes predominantly associated with short stature |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q874 Marfan's syndrome |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Females |
1 |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q878 Other specified congenital malformation syndromes, not elsewhere classified |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
3 |
3 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q897 Multiple congenital malformations, not elsewhere classified |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
1 |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q898 Other specified congenital malformations |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
2 |
2 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q90-Q99 Chromosomal abnormalities, not elsewhere classified |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
24 |
7 |
1 |
- |
- |
- |
- |
- |
- |
- |
2 |
1 |
- |
5 |
4 |
2 |
2 |
- |
- |
- |
- |
Females |
18 |
5 |
- |
- |
1 |
- |
- |
- |
- |
1 |
- |
1 |
1 |
1 |
6 |
2 |
- |
- |
- |
- |
- |
Q909 Down's syndrome, unspecified |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
17 |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
2 |
1 |
- |
5 |
4 |
2 |
2 |
- |
- |
- |
- |
Females |
12 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
1 |
6 |
2 |
- |
- |
- |
- |
- |
Q913 Edwards' syndrome, unspecified |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
3 |
3 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
3 |
3 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q914 Trisomy 13, meiotic nondisjunction |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q917 Patau's syndrome, unspecified |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
2 |
2 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Females |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q922 Major partial trisomy |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Males |
1 |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q934 Deletion of short arm of chromosome 5 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Females |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Q998 Other specified chromosome abnormalities |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Females |
1 |
- |
- |
- |
1 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
|