Concept information
Terme préférentiel
Chromosome Disorders
Type
-
mesh:Descriptor
Définition
- 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)
Concept générique
Concepts spécifiques
- 22q11 Deletion Syndrome
- Angelman Syndrome
- Beckwith-Wiedemann Syndrome
- Branchio-Oto-Renal Syndrome
- Cri-du-Chat Syndrome
- De Lange Syndrome
- Down Syndrome
- Holoprosencephaly
- Jacobsen Distal 11q Deletion Syndrome
- Prader-Willi Syndrome
- Rubinstein-Taybi Syndrome
- Sex Chromosome Disorders
- Silver-Russell Syndrome
- Smith-Magenis Syndrome
- Sotos Syndrome
- Trisomy 13 Syndrome
- Trisomy 18 Syndrome
- WAGR Syndrome
- Williams Syndrome
- Wolf-Hirschhorn Syndrome
Synonyme(s)
- Chromosomal Disorders
- Chromosome Abnormality Disorders
Qualificatif(s) autorisé(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
Traductions
-
français
-
Maladies par aberrations chromosomiques
-
Troubles chromosomiques
URI
http://data.loterre.fr/ark:/67375/JVR-CS1KZF68-9
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