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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Rett Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Rett Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Rett Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Rett Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Rett Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Rett Syndrome

Preferred term

Rett Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
  • Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
  • Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
  • Cerebroatrophic Hyperammonemia
  • Cerebroatrophic Hyperammonemias
  • Hyperammonemia, Cerebroatrophic
  • Hyperammonemias, Cerebroatrophic
  • Rett Disorder
  • Rett's Disorder
  • Rett's Syndrome
  • Retts Syndrome
  • Syndrome, Rett's

Scope note

  • An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

History note

  • 90

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URI

http://www.yso.fi/onto/mesh/D015518

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