Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Preferred term
Trisomy 18 Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Complete Trisomy 18 Syndrome
- Mosaic Trisomy 18 Syndrome
- Trisomy 18
- Trisomy E Syndrome
Scope note
- 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.
History note
- 2018
In other languages
-
Finnish
-
18-trisomia
-
Swedish
URI
http://www.yso.fi/onto/mesh/D000073842
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