ONKI3 | Medical Subject Headings

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Niemann-Pick Disease, Type C

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Hierarchy:	Medical Subject Headings (MeSH) ∟ 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 C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ 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 C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ 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 C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ Hemic and Lymphatic Diseases ∟ Lymphatic Diseases ∟ Lymphoproliferative Disorders ∟ Lymphoma ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ Hemic and Lymphatic Diseases ∟ Lymphatic Diseases ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ Immune System Diseases ∟ Immunoproliferative Disorders ∟ Lymphoproliferative Disorders ∟ Lymphoma ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ Neoplasms ∟ Neoplasms by Histologic Type ∟ Lymphoma ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ 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 C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ 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 C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Sphingolipidoses ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ 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 C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Sphingolipidoses ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B Medical Subject Headings (MeSH) ∟ 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 C 2 coordinate concepts ∟ Niemann-Pick Disease, Type A \| ∟ Niemann-Pick Disease, Type B X
Broader terms:	Medical Subject Headings (MeSH) ∟ 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 C Medical Subject Headings (MeSH) ∟ 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 C Medical Subject Headings (MeSH) ∟ 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 C Medical Subject Headings (MeSH) ∟ Hemic and Lymphatic Diseases ∟ Lymphatic Diseases ∟ Lymphoproliferative Disorders ∟ Lymphoma ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C Medical Subject Headings (MeSH) ∟ Hemic and Lymphatic Diseases ∟ Lymphatic Diseases ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C Medical Subject Headings (MeSH) ∟ Immune System Diseases ∟ Immunoproliferative Disorders ∟ Lymphoproliferative Disorders ∟ Lymphoma ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C Medical Subject Headings (MeSH) ∟ Neoplasms ∟ Neoplasms by Histologic Type ∟ Lymphoma ∟ Reticuloendotheliosis ∟ Histiocytosis ∟ Histiocytosis, Non-Langerhans-Cell ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C Medical Subject Headings (MeSH) ∟ 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 C Medical Subject Headings (MeSH) ∟ 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 C Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Sphingolipidoses ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C Medical Subject Headings (MeSH) ∟ 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 C Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Sphingolipidoses ∟ Niemann-Pick Diseases ∟ Niemann-Pick Disease, Type C Medical Subject Headings (MeSH) ∟ 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 C Niemann-Pick Diseases > Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Histiocytosis, Non-Langerhans-Cell > Histiocytosis > Reticuloendotheliosis > Lymphoma > Lymphoproliferative Disorders > Lymphatic Diseases > Hemic and Lymphatic Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Histiocytosis, Non-Langerhans-Cell > Histiocytosis > Reticuloendotheliosis > Lymphatic Diseases > Hemic and Lymphatic Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Histiocytosis, Non-Langerhans-Cell > Histiocytosis > Reticuloendotheliosis > Lymphoma > Lymphoproliferative Disorders > Immunoproliferative Disorders > Immune System Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Histiocytosis, Non-Langerhans-Cell > Histiocytosis > Reticuloendotheliosis > Lymphoma > Neoplasms by Histologic Type > Neoplasms > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lipidoses > Lipid Metabolism Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Niemann-Pick Diseases > Sphingolipidoses > Lysosomal Storage Diseases, Nervous System > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Niemann-Pick Diseases (1968-2006)X
historyNote*:	2007; use NIEMANN-PICK DISEASES 2000-2006 X
publicMeSHNote*:	2007; see NIEMANN-PICK DISEASES 2000-2006 X
Scope note:	An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry. X
activeMeSHYear*:	2007X
dateCreated*:	2006-07-05X
dateEstablished*:	2007-01-01X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	lktX
Type:	Concept X
Coordinate terms:	Niemann-Pick Disease, Type A \| Niemann-Pick Disease, Type B X
URI:	X
Labels and equivalent concepts:	Niemann-Pickin tauti, tyyppi C (fi) Niemann-Pick's Disease Type C (en, replaced) Niemann-Pick's Disease Type D (en, replaced) Niemann-Pick Disease, Nova Scotian (en, replaced) Niemann-Pick Disease, Chronic Neuronopathic Form (en, replaced) Niemann-Pick Disease with Cholesterol Esterification Block (en, replaced) Niemann-Pick Disease without Sphingomyelinase Deficiency (en, replaced) Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia (en, replaced) X
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