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Concept information

Preferred term

Trisomy 18 Syndrome  

Type

  • Topical Descriptor

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

URI

http://www.yso.fi/onto/mesh/D000073842

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