Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Niemann-Pick Diseases > Niemann-Pick Disease, Type A
... > Hemic and Lymphatic Diseases > Lymphatic Diseases > Histiocytosis > Histiocytosis, Non-Langerhans-Cell > Niemann-Pick Diseases > Niemann-Pick Disease, Type A

Terme préférentiel

Niemann-Pick Disease, Type A  

Type

  • mesh:Descriptor

Définition

  • The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.

Concept générique

Synonyme(s)

  • Classical Niemann-Pick Disease
  • Neuronal Cholesterol Lipidosis
  • Niemann-Pick Disease, Acute Neuronopathic Form
  • Niemann-Pick Disease, Acute Neurovisceral Form
  • Niemann-Pick Disease, Neuronopathic Type
  • Niemann-Pick's Disease Type A
  • Ophthalmoplegia, Supraoptic Vertical
  • Sphingomyelinase Deficiency
  • Sphingomyelinase Deficiency Disease
  • Sphingomyelin Cholesterol Lipidosis
  • Sphingomyelin Lipidosis
  • Type A Niemann-Pick Disease

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Niemann-Pick de type A

    français

  • Déficit en sphingomyélinase acide de type A
  • Maladie de Niemann-Pick type A
  • Maladie de Niemann-Pick type neuronopathique

URI

http://data.loterre.fr/ark:/67375/JVR-KCJ9M8NG-8

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 01/07/2021