syndrom trizomie 18 [Trisomy 18 Syndrome]

tematický
5
Termíny

Edwardsův syndrom
kompletní trizomie 18
mozaiková forma Edwardsova syndromu
trisomie 18
trisomie 18, mozaika
trizomie 18
trizomie chromozomu 18
úplná trizomie 18

 

Complete Trisomy 18 Syndrome
Edwards Syndrome
Mosaic Trisomy 18 Syndrome
Trisomy 18
Trisomy E Syndrome

Perzistentní odkaz   https://www.medvik.cz/link/D000073842
Definice

Trizomie 18. Má velmi variabilní obraz. Bývají poruchy růstu, dysmorfie obličeje, prstů, srdeční poruchy, psychomotorická retardace. Prognóza je infaustní, většina dětí nepřežívá 1. rok. (cit. podle: Velký lékařský slovník online, 2018 http://lekarske.slovniky.cz)

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.

DUI
D000073842 MeSH Prohlížeč
CUI
M000624074
Historická pozn.
2018
Veřejná pozn.
2018; TRISOMY 18 was indexed under CHROMOSOMES, HUMAN, PAIR 18; and TRISOMY 2014-2017

C Nemoci
C14.240.400 vrozené srdeční vady 1 559
C14.240.400.021 syndrom delece 22q11 2
C14.240.400.044 Alagillův syndrom 19
C14.240.400.090 koarktace aorty 202
C14.240.400.172 Barthův syndrom 6
C14.240.400.200 cor triatriatum 3
C14.240.400.210 anomálie koronárních cév 118
C14.240.400.220 crisscross srdce 1
C14.240.400.280 dextrokardie 21
C14.240.400.340 otevřená tepenná dučej 108
C14.240.400.395 Ebsteinova anomálie 46
C14.240.400.422 ectopia cordis 1
C14.240.400.450 Eisenmengerův syndrom 23
C14.240.400.560 defekty srdečního septa 164
C14.240.400.592 heterotaxe 7
C14.240.400.701 levokardie 2
C14.240.400.725 Marfanův syndrom 105
C14.240.400.787 Noonanové syndrom 51
C14.240.400.849 Fallotova tetralogie 162
C14.240.400.915 transpozice velkých cév 109
C14.240.400.920 trikuspidální atrézie 10
C14.240.400.960 Fallotova trilogie 2
C14.240.400.970 Patauův syndrom 6
C14.240.400.975 syndrom trizomie 18 5
C14.240.400.980 Turnerův syndrom 271
C14.240.400.990 jednokomorové srdce 3
C14.280 nemoci srdce 2 860
C14.280.400 vrozené srdeční vady 1 559
C14.280.400.044 syndrom delece 22q11 2
C14.280.400.090 koarktace aorty 202
C14.280.400.172 Barthův syndrom 6
C14.280.400.200 cor triatriatum 3
C14.280.400.210 anomálie koronárních cév 118
C14.280.400.220 crisscross srdce 1
C14.280.400.280 dextrokardie 21
C14.280.400.340 otevřená tepenná dučej 108
C14.280.400.395 Ebsteinova anomálie 46
C14.280.400.450 Eisenmengerův syndrom 23
C14.280.400.560 defekty srdečního septa 164
C14.280.400.592 heterotaxe 7
C14.280.400.701 levokardie 2
C14.280.400.725 Marfanův syndrom 105
C14.280.400.787 Noonanové syndrom 51
C14.280.400.849 Fallotova tetralogie 162
C14.280.400.915 transpozice velkých cév 109
C14.280.400.920 trikuspidální atrézie 10
C14.280.400.960 Fallotova trilogie 2
C14.280.400.970 Patauův syndrom 6
C14.280.400.975 syndrom trizomie 18 5
C14.280.400.980 Turnerův syndrom 271
C14.280.400.990 jednokomorové srdce 3
C16.131 vrozené vady 1 740
C16.131.077.019 syndrom delece 22q11 2
C16.131.077.065 Alagillův syndrom 19
C16.131.077.095 Angelmanův syndrom 35
C16.131.077.121 Barthův syndrom 6
C16.131.077.137 Bloomův syndrom 11
C16.131.077.229 Carneyův komplex 8
C16.131.077.245 ciliopatie 9
C16.131.077.250 Cockayneův syndrom 4
C16.131.077.256 Costellův syndrom 3
C16.131.077.272 de Langeové syndrom 4
C16.131.077.299 hluchoslepota 65
C16.131.077.313 Donohueův syndrom 1
C16.131.077.327 Downův syndrom 510
C16.131.077.350 ektodermální dysplazie 33
C16.131.077.371 Fraserův syndrom 2
C16.131.077.393 Gardnerův syndrom 20
C16.131.077.401 heterotaxe 7
C16.131.077.410 holoprosencefalie 8
C16.131.077.445 incontinentia pigmenti 19
C16.131.077.537 Loeysův-Dietzův syndrom 7
C16.131.077.550 Marfanův syndrom 105
C16.131.077.578 Moebiův syndrom 10
C16.131.077.592 moniletrichosis 1
C16.131.077.619 Nethertonův syndrom 2
C16.131.077.696 Cantrellova pentalogie 1
C16.131.077.703 POEMS syndrom 34
C16.131.077.730 Praderův-Williho syndrom 91
C16.131.077.735 nedostatek prolidázy
C16.131.077.740 Proteův syndrom 8
C16.131.077.745 prune belly syndrom 3
C16.131.077.790 zarděnky vrozené 20
C16.131.077.889 Sotosův syndrom 4
C16.131.077.919 Patauův syndrom 6
C16.131.077.929 syndrom trizomie 18 5
C16.131.077.938 Waardenburgův syndrom 10
C16.131.077.970 Zellwegerův syndrom 10
C16.131.240.400 vrozené srdeční vady 1 559
C16.131.240.400.021 syndrom delece 22q11 2
C16.131.240.400.044 Alagillův syndrom 19
C16.131.240.400.090 koarktace aorty 202
C16.131.240.400.118 aorto-ventrikulární tunel 1
C16.131.240.400.172 Barthův syndrom 6
C16.131.240.400.200 cor triatriatum 3
C16.131.240.400.210 anomálie koronárních cév 118
C16.131.240.400.220 crisscross srdce 1
C16.131.240.400.280 dextrokardie 21
C16.131.240.400.340 otevřená tepenná dučej 108
C16.131.240.400.395 Ebsteinova anomálie 46
C16.131.240.400.422 ectopia cordis 1
C16.131.240.400.450 Eisenmengerův syndrom 23
C16.131.240.400.560 defekty srdečního septa 164
C16.131.240.400.592 heterotaxe 7
C16.131.240.400.625 syndrom hypoplazie levého srdce 34
C16.131.240.400.701 levokardie 2
C16.131.240.400.715 syndrom dlouhého QT 217
C16.131.240.400.720 Marfanův syndrom 105
C16.131.240.400.784 Noonanové syndrom 51
C16.131.240.400.849 Fallotova tetralogie 162
C16.131.240.400.915 transpozice velkých cév 109
C16.131.240.400.920 trikuspidální atrézie 10
C16.131.240.400.960 Fallotova trilogie 2
C16.131.240.400.965 Patauův syndrom 6
C16.131.240.400.968 syndrom trizomie 18 5
C16.131.240.400.970 Turnerův syndrom 271
C16.131.240.400.975 jednokomorové srdce 3
C16.131.260.019 syndrom delece 22q11 2
C16.131.260.040 Angelmanův syndrom 35
C16.131.260.210 de Langeové syndrom 4
C16.131.260.260 Downův syndrom 510
C16.131.260.380 holoprosencefalie 8
C16.131.260.440 Jacobsenův syndrom 1
C16.131.260.700 Praderův-Williho syndrom 91
C16.131.260.905 Sotosův syndrom 4
C16.131.260.923 Patauův syndrom 6
C16.131.260.932 syndrom trizomie 18 5
C16.131.260.940 syndrom WAGR 3
C16.320.180.019 syndrom delece 22q11 2
C16.320.180.040 Angelmanův syndrom 35
C16.320.180.210 de Langeové syndrom 4
C16.320.180.260 Downův syndrom 510
C16.320.180.380 holoprosencefalie 8
C16.320.180.440 Jacobsenův syndrom 1
C16.320.180.700 Praderův-Williho syndrom 91
C16.320.180.905 Sotosův syndrom 4
C16.320.180.923 Patauův syndrom 6
C16.320.180.932 syndrom trizomie 18 5
C16.320.180.940 syndrom WAGR 3