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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > 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
... > 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 > Lysosomal Storage Diseases > 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 > 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
... > 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 > Brain Diseases, Metabolic, Inborn > 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

Preferred term

Niemann-Pick Disease, Type A  

Type

  • Topical Descriptor

Broader concept

Entry terms

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

Scope note

  • 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.

History note

  • 2007; use NIEMANN-PICK DISEASES 2000-2006

In other languages

URI

http://www.yso.fi/onto/mesh/D052536

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