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Concept information

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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Trisomy 13 Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Trisomy 13 Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Trisomy 13 Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Trisomy 13 Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Trisomy 13 Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > 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

Terme préférentiel

Trisomy 13 Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome de Patau

    français

  • Syndrome de Bartholin-Patau
  • Syndrome de trisomie 13
  • Syndrome de trisomie du chromosome 13

URI

http://data.loterre.fr/ark:/67375/JVR-D3L2XS4S-G

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RDF/XML TURTLE JSON-LD Date de création 11/07/2017, dernière modification le 01/07/2019