Down Syndrome [Downův syndrom]

topical
510
Terms

částečná trizomie 21
Downova nemoc
mongolismus
morbus Downi
trisomie 21
trisomie 21, mitotická nondisjunkce
trizomie 21
trizomie 21, meiotická nondisjunkce
trizomie 21, mitotická nondisjunkce
trizomie 21, mozaika

 

47,XX,+21
47,XY,+21
Down Syndrome, Partial Trisomy 21
Down's Syndrome
Mongolism
Partial Trisomy 21 Down Syndrome
Trisomy 21
Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction
Trisomy G

Persistent link   https://www.medvik.cz/link/D004314
Definition

A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

DUI
D004314 MeSH Browser
CUI
M0006778
History note
93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
Online note
use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74
Public note
93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74

Allowable subheadings

BL
blood 15
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 44
DI
diagnosis 170
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy 3
EC
economics
EM
embryology
EN
enzymology 2
EP
epidemiology 36
EH
ethnology 1
ET
etiology 28
GE
genetics 85
HI
history 3
IM
immunology 10
ME
metabolism 8
MI
microbiology
MO
mortality 4
NU
nursing 5
PS
parasitology
PA
pathology 12
PP
physiopathology 10
PC
prevention & control 25
PX
psychology 14
RT
radiotherapy
RH
rehabilitation 10
SU
surgery 1
TH
therapy 13
UR
urine 1
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 878
C10.597 Neurologic Manifestations 1 052
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 045
C10.597.606.360.180 Cri-du-Chat Syndrome 11
C10.597.606.360.210 De Lange Syndrome 4
C10.597.606.360.220 Down Syndrome 510
C10.597.606.360.455 X-Linked Intellectual Disability 17
C10.597.606.360.690 Prader-Willi Syndrome 92
C10.597.606.360.700 Rubinstein-Taybi Syndrome 12
C10.597.606.360.835 Trisomy 13 Syndrome 6
C10.597.606.360.969 WAGR Syndrome 3
C10.597.606.360.970 Williams Syndrome 21
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.260 Chromosome Disorders 259
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.040 Angelman Syndrome 35
C16.131.260.080 Beckwith-Wiedemann Syndrome 17
C16.131.260.090 Branchio-Oto-Renal Syndrome 5
C16.131.260.190 Cri-du-Chat Syndrome 11
C16.131.260.210 De Lange Syndrome 4
C16.131.260.260 Down Syndrome 510
C16.131.260.380 Holoprosencephaly 8
C16.131.260.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.131.260.700 Prader-Willi Syndrome 92
C16.131.260.790 Rubinstein-Taybi Syndrome 12
C16.131.260.830 Sex Chromosome Disorders 11
C16.131.260.870 Silver-Russell Syndrome 3
C16.131.260.887 Smith-Magenis Syndrome 2
C16.131.260.905 Sotos Syndrome 4
C16.131.260.923 Trisomy 13 Syndrome 6
C16.131.260.932 Trisomy 18 Syndrome 5
C16.131.260.940 WAGR Syndrome 3
C16.131.260.970 Williams Syndrome 21
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.320 Genetic Diseases, Inborn 1 213
C16.320.180 Chromosome Disorders 259
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.040 Angelman Syndrome 35
C16.320.180.080 Beckwith-Wiedemann Syndrome 17
C16.320.180.090 Branchio-Oto-Renal Syndrome 5
C16.320.180.190 Cri-du-Chat Syndrome 11
C16.320.180.210 De Lange Syndrome 4
C16.320.180.260 Down Syndrome 510
C16.320.180.380 Holoprosencephaly 8
C16.320.180.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.320.180.700 Prader-Willi Syndrome 92
C16.320.180.790 Rubinstein-Taybi Syndrome 12
C16.320.180.830 Sex Chromosome Disorders 11
C16.320.180.870 Silver-Russell Syndrome 3
C16.320.180.887 Smith-Magenis Syndrome 2
C16.320.180.905 Sotos Syndrome 4
C16.320.180.923 Trisomy 13 Syndrome 6
C16.320.180.932 Trisomy 18 Syndrome 5
C16.320.180.940 WAGR Syndrome 3
C16.320.180.970 Williams Syndrome 21
C16.320.180.985 Wolf-Hirschhorn Syndrome

Down Syndrome Critical Region Disease MeSH Browser

Leukemia, Megakaryoblastic, of Down Syndrome Disease MeSH Browser

Myeloproliferative Syndrome, Transient Disease MeSH Browser

Transient Myeloproliferative Disorder of Down Syndrome Disease MeSH Browser

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