Chromosome Disorders [chromozomální poruchy]

topical
260
Terms

autosomální poruchy
autozomální poruchy
autozómy - poruchy
chromosomální poruchy
chromosomální vady
chromozomální vady

 

Autosomal Chromosome Disorders
Chromosomal Disorders
Chromosome Abnormality Disorders

Persistent link   https://www.medvik.cz/link/D025063
Definition

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Annotation
general or unspecified; prefer specifics; coordinate with specific numbered chromosome
DUI
D025063 MeSH Browser
CUI
M0373367
Previous indexing
Chromosome Abnormalities (1964-2001)
History note
2002; see CHROMOSOMAL ABNORMALITIES 1978-1995
Public note
2002

Allowable subheadings

BL
blood 2
CF
cerebrospinal fluid
CI
chemically induced 2
CL
classification 8
CO
complications 5
DI
diagnosis 59
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology 2
EN
enzymology
EP
epidemiology 7
EH
ethnology
ET
etiology 13
GE
genetics 28
HI
history
IM
immunology
ME
metabolism 1
MI
microbiology
MO
mortality 2
NU
nursing
PS
parasitology
PA
pathology 8
PP
physiopathology 1
PC
prevention & control 10
PX
psychology 1
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 2
UR
urine
VE
veterinary 1
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.042 Abnormalities, Drug-Induced 266
C16.131.077 Abnormalities, Multiple 330
C16.131.080 Abnormalities, Radiation-Induced 8
C16.131.085 Abnormalities, Severe Teratoid 37
C16.131.162 Aicardi Syndrome
C16.131.240 Cardiovascular Abnormalities 91
C16.131.260 Chromosome Disorders 260
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 9
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 12
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 22
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.131.287 Congenital Microtia
C16.131.314 Digestive System Abnormalities 64
C16.131.384 Eye Abnormalities 107
C16.131.433 Hernias, Diaphragmatic, Congenital 55
C16.131.482 Lymphatic Abnormalities 8
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.666 Nervous System Malformations 82
C16.131.740 Respiratory System Abnormalities 39
C16.131.810 Situs Inversus 33
C16.131.831 Skin Abnormalities 51
C16.131.850 Stomatognathic System Abnormalities 86
C16.131.894 Thyroid Dysgenesis 15
C16.131.939 Urogenital Abnormalities 146
C16.320 Genetic Diseases, Inborn 1 215
C16.320.033 Adrenal Hyperplasia, Congenital 226
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 86
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 48
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 64
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 33
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 260
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 9
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 12
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 22
C16.320.180.985 Wolf-Hirschhorn Syndrome
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 330
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 99
C16.320.290 Eye Diseases, Hereditary 58
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 2
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.338 Genetic Diseases, Y-Linked 1
C16.320.355 Hajdu-Cheney Syndrome 6
C16.320.365 Hemoglobinopathies 68
C16.320.382 Hereditary Autoinflammatory Diseases 47
C16.320.400 Heredodegenerative Disorders, Nervous System 46
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 2
C16.320.447 Imprinting Disorders
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.495 Lennox Gastaut Syndrome 6
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 714
C16.320.577 Muscular Dystrophies 141
C16.320.590 Myasthenic Syndromes, Congenital 21
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 144
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 125
C16.320.737 Osteogenesis Imperfecta 106
C16.320.775 Pain Insensitivity, Congenital 10
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798 Primary Immunodeficiency Diseases 48
C16.320.812 Pycnodysostosis 2
C16.320.831 Renal Tubular Transport, Inborn Errors 36
C16.320.850 Skin Diseases, Genetic 89
C16.320.925 Werner Syndrome 14
C16.320.962 Yellow Nail Syndrome

10p Deletion Syndrome (Partial) Disease MeSH Browser

13q deletion syndrome Disease MeSH Browser

15q24 Microdeletion Disease MeSH Browser

16p11.2 Deletion Syndrome Disease MeSH Browser

6q+ Syndrome, Partial Disease MeSH Browser

7p2 monosomy syndrome Disease MeSH Browser

9q22.3 Microdeletion Disease MeSH Browser

Chromosome 10q duplication syndrome Disease MeSH Browser

Chromosome 13q-mosaicism Disease MeSH Browser

Chromosome 15q13.3 Microdeletion Syndrome Disease MeSH Browser

Chromosome 17p13.3 Duplication Syndrome Disease MeSH Browser

Chromosome 18 deletion syndrome Disease MeSH Browser

Chromosome 18p deletion syndrome Disease MeSH Browser

Chromosome 19q13.11 Deletion Syndrome Disease MeSH Browser

Chromosome 1p36 Deletion Syndrome Disease MeSH Browser

Chromosome 22, monosome mosaic Disease MeSH Browser

Chromosome 3 duplication syndrome Disease MeSH Browser

Chromosome 3q29 Duplication Syndrome Disease MeSH Browser

Chromosome 4, 4q Terminal Deletion Syndrome Disease MeSH Browser

Chromosome 4q- Syndrome Disease MeSH Browser

Chromosome 5p13 Duplication Syndrome Disease MeSH Browser

Chromosome 6 ring syndrome Disease MeSH Browser

Chromosome 7 ring syndrome Disease MeSH Browser

Chromosome Xp11.23-P11.22 Duplication Syndrome Disease MeSH Browser

Contiguous Abcd1-Dxs1375e Deletion Syndrome Disease MeSH Browser

Delayed Cranial Ossification due to CBFB Haploinsufficiency Disease MeSH Browser

Deletion 13q syndrome, partial Disease MeSH Browser

Distal Trisomy 10q Syndrome Disease MeSH Browser

Duplication 4p Syndrome Disease MeSH Browser

Edinburgh Malformation Syndrome Disease MeSH Browser

Emanuel syndrome Disease MeSH Browser

Fragile Site 16p12 Disease MeSH Browser

Isodicentric Chromosome 15 Syndrome Disease MeSH Browser

Mental Retardation, Fra12a Type Disease MeSH Browser

Monosomy 7 of Bone Marrow Disease MeSH Browser

Mosaic variegated aneuploidy syndrome Disease MeSH Browser

NF1 Microduplication Syndrome Disease MeSH Browser

Otodental Dysplasia Disease MeSH Browser

Pallister Killian syndrome Disease MeSH Browser

Partial Duplication 15q Syndrome Disease MeSH Browser

Partial Trisomy 3q Syndrome Disease MeSH Browser

Potocki-Lupski syndrome Disease MeSH Browser

Potocki-Shaffer syndrome Disease MeSH Browser

Recombinant chromosome 8 syndrome Disease MeSH Browser

Ring chromosome 4 syndrome Disease MeSH Browser

Schaaf-Yang syndrome Chemical MeSH Browser

Schmid-Fraccaro syndrome Disease MeSH Browser

Telomeric 22q13 Monosomy Syndrome Disease MeSH Browser

Thrombocytopenia chromosome breakage Disease MeSH Browser

Trisomy 18-Like Syndrome Disease MeSH Browser

Trisomy 22 mosaicism syndrome Disease MeSH Browser

Warburton Anyane Yeboa syndrome Disease MeSH Browser

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