Concept information
Preferred term
Chromosome Disorders
Type
-
Topical Descriptor
Broader concept
Narrower concepts
- 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
Entry terms
- Chromosomal Disorder
- Chromosomal Disorders
- Chromosome Abnormality Disorder
- Chromosome Abnormality Disorders
- Disorder, Chromosomal
- Disorder, Chromosome Abnormality
- Disorders, Chromosomal
Note
- general or unspecified; prefer specifics; coordinate with specific numbered chromosome
Scope note
- 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)
History note
- 2002; see CHROMOSOMAL ABNORMALITIES 1978-1995
In other languages
-
Finnish
-
kromosomihäiriö
-
Swedish
URI
http://www.yso.fi/onto/mesh/D025063
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