ONKI3 | Medical Subject Headings

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Neuronal Ceroid-Lipofuscinoses

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Neuronal Ceroid-Lipofuscinoses 29 coordinate concepts ∟ Cholesterol Ester Storage Disease \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Neuronal Ceroid-Lipofuscinoses 29 coordinate concepts ∟ Cholesterol Ester Storage Disease \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Neuronal Ceroid-Lipofuscinoses 29 coordinate concepts ∟ Cholesterol Ester Storage Disease \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Neuronal Ceroid-Lipofuscinoses 29 coordinate concepts ∟ Cholesterol Ester Storage Disease \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Neuronal Ceroid-Lipofuscinoses 29 coordinate concepts ∟ Cholesterol Ester Storage Disease \| ∟ Sjogren-Larsson Syndrome \| ∟ Sphingolipidoses \| ∟ Alexander Disease \| ∟ Amyloid Neuropathies, Familial \| ∟ Canavan Disease \| ∟ Cockayne Syndrome \| ∟ Dystonia Musculorum Deformans \| ∟ Gerstmann-Straussler-Scheinker Disease \| ∟ Hallervorden-Spatz Syndrome \| ∟ Hepatolenticular Degeneration \| ∟ Hereditary Central Nervous System Demyelinating Diseases \| ∟ Hereditary Motor and Sensory Neuropathies \| ∟ Hereditary Sensory and Autonomic Neuropathies \| ∟ Huntington Disease \| ∟ Lafora Disease \| ∟ Lesch-Nyhan Syndrome \| ∟ Menkes Kinky Hair Syndrome \| ∟ Mental Retardation, X-Linked \| ∟ Myotonia Congenita \| ∟ Myotonic Dystrophy \| ∟ Neurofibromatoses \| ∟ Optic Atrophies, Hereditary \| ∟ Rett Syndrome \| ∟ Spinal Muscular Atrophies of Childhood \| ∟ Spinocerebellar Degenerations \| ∟ Tourette Syndrome \| ∟ Tuberous Sclerosis \| ∟ Unverricht-Lundborg Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Neuronal Ceroid-Lipofuscinoses Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Neuronal Ceroid-Lipofuscinoses Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Neuronal Ceroid-Lipofuscinoses Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Lipidoses ∟ Neuronal Ceroid-Lipofuscinoses Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Lipidoses ∟ Neuronal Ceroid-Lipofuscinoses Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Lipidoses > Lipid Metabolism Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Lipidoses > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Ceroid (1975-1982) \| Lipofuscin (1975-1982) \| Lipoidosis (1966-1982) \| Pigments (1966-1982)X
historyNote*:	2007 (1983) X
publicMeSHNote*:	2007; see NEURONAL CEROID-LIPOFUSCINOSIS 1983-2006 X
Scope note:	A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. X
activeMeSHYear*:	2007X
dateCreated*:	1982-04-28X
dateEstablished*:	1983-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	RCX
Type:	Concept X
Coordinate terms:	Cholesterol Ester Storage Disease \| Sjogren-Larsson Syndrome \| Sphingolipidoses \| Alexander Disease \| Amyloid Neuropathies, Familial \| Canavan Disease \| Cockayne Syndrome \| Dystonia Musculorum Deformans \| Gerstmann-Straussler-Scheinker Disease \| Hallervorden-Spatz Syndrome \| Hepatolenticular Degeneration \| Hereditary Central Nervous System Demyelinating Diseases \| Hereditary Motor and Sensory Neuropathies \| Hereditary Sensory and Autonomic Neuropathies \| Huntington Disease \| Lafora Disease \| Lesch-Nyhan Syndrome \| Menkes Kinky Hair Syndrome \| Mental Retardation, X-Linked \| Myotonia Congenita \| Myotonic Dystrophy \| Neurofibromatoses \| Optic Atrophies, Hereditary \| Rett Syndrome \| Spinal Muscular Atrophies of Childhood \| Spinocerebellar Degenerations \| Tourette Syndrome \| Tuberous Sclerosis \| Unverricht-Lundborg Syndrome X
URI:	X
Labels and equivalent concepts:	Neuronaaliset seroidilipofuskinoosit (fi) Morbus Bielschowsky-Jansky (fi, replaced) Morbus Santavuori-Haltia (fi, replaced) NCL (fi, replaced) Lipofuskinoosi (fi, replaced) Kufsin tauti (fi, replaced) INCL (fi, replaced) Infantiilinen neuronaalinen seroidilipofuskinoosi (fi, replaced) NCL-tauti (fi, replaced) Neuronaalinen seroidilipofuskinoosi (fi, replaced) Santavuori-Haltian tauti (fi, replaced) Spielmeyer-Vogtin tauti (fi, replaced) Bielschowsky-Janskyn tauti (fi, replaced) Battenin tauti (fi, replaced) Juvenile Cerebroretinal Degeneration (en, replaced) Kufs Disease (en, replaced) Jansky-Bielschowsky Disease (en, replaced) Ceroid-Lipofuscinosis, Neuronal (en, replaced) Batten-Mayou Disease (en, replaced) Batten-Spielmeyer-Vogt Disease (en, replaced) Lipofuscinosis, Neuronal Ceroid (en, replaced) Neuronal Ceroid Lipfuscinosis, Infantile (en, replaced) Santavuori-Haltia Disease (en, replaced) Spielmeyer-Vogt Disease (en, replaced) Neuronal Ceroid-Lipofuscinosis (en, replaced) Neuronal Ceroid Lipfuscinosis. Adult (en, replaced) Neuronal Ceroid Lipfuscinosis, Juvenile (en, replaced) Neuronal Ceroid Lipfuscinosis, Late-Infantile (en, replaced) Batten Disease (en, replaced) Morbus Kufs (la-FI, replaced) Morbus Spielmeyer-Vogt (la-FI, replaced) Morbus Batten (la-FI, replaced) Lipofuscinosis neuronalis ceroides (la-FI, replaced) X
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