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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Cri-du-Chat Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Cri-du-Chat Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Cri-du-Chat Syndrome
Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Cri-du-Chat Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Cri-du-Chat Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Cri-du-Chat Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Cri-du-Chat Syndrome

Terme préférentiel

Cri-du-Chat Syndrome  

Type

  • mesh:Descriptor

Définition

  • An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).

Concept générique

Synonyme(s)

  • 5p Deletion Syndrome
  • 5p Minus Syndrome
  • 5p- Syndrome
  • Cat Cry Syndrome
  • Chromosome 5p Deletion Syndrome
  • Chromosome 5p- Syndrome
  • Chromosome 5 Short Arm Deletion Syndrome
  • Crying Cat Syndrome
  • Deletion of Short Arm of Chromosome 5 Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Maladie du cri du chat

    français

  • Syndrome de délétion du bras court du chromosome 5
  • Syndrome de délétion du chromosome 5p
  • Syndrome de Lejeune
  • Syndrome du cri du chat

URI

http://data.loterre.fr/ark:/67375/JVR-LS9LF2W0-C

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2018