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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Trisomy 13 Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Trisomy 13 Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Trisomy 13 Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Trisomy 13 Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Trisomy 13 Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Trisomy 13 Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Trisomy 13 Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Trisomy 13 Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Trisomy 13 Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Trisomy 13 Syndrome

Preferred term

Trisomy 13 Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Bartholin Patau Syndrome
  • Bartholin-Patau Syndrome
  • Chromosome 13 Trisomy Syndrome
  • Patau's Syndrome
  • Pataus Syndrome
  • Patau Syndrome
  • Trisomy 13 Syndromes

Scope note

  • A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

History note

  • 2018(2010)

In other languages

URI

http://www.yso.fi/onto/mesh/D000073839

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