serw-MX  [xml]  
 


    
 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System .
C10.228.140.163.100.435.825 Sphingolipidoses .
C10.228.140.163.100.435.825.400 Gaucher Disease .
C10.668 Neuromuscular Diseases .
C10.668.829 Peripheral Nervous System Diseases .
C10.668.829.800 Polyneuropathies .
C10.668.829.800.875 Tangier Disease .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System .
C16.320.565.189.435.825 Sphingolipidoses .
C16.320.565.189.435.825.400 Gaucher Disease .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.500 Hypolipoproteinemias .
C16.320.565.398.500.330 Hypoalphalipoproteinemias .
C16.320.565.398.500.330.750 Tangier Disease .
C16.320.565.398.641 Lipidoses .
C16.320.565.398.641.803 Sphingolipidoses .
C16.320.565.398.641.803.441 Gaucher Disease .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System .
C16.320.565.595.554.825 Sphingolipidoses .
C16.320.565.595.554.825.400 Gaucher Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System .
C18.452.132.100.435.825 Sphingolipidoses .
C18.452.132.100.435.825.400 Gaucher Disease .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.500 Dyslipidemias .
C18.452.584.500.875 Hypolipoproteinemias .
C18.452.584.500.875.330 Hypoalphalipoproteinemias .
C18.452.584.500.875.330.750 Tangier Disease .
C18.452.584.687 Lipidoses .
C18.452.584.687.803 Sphingolipidoses .
C18.452.584.687.803.441 Gaucher Disease .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System .
C18.452.648.189.435.825 Sphingolipidoses .
C18.452.648.189.435.825.400 Gaucher Disease .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.500 Hypolipoproteinemias .
C18.452.648.398.500.330 Hypoalphalipoproteinemias .
C18.452.648.398.500.330.750 Tangier Disease .
C18.452.648.398.641 Lipidoses .
C18.452.648.398.641.803 Sphingolipidoses .
C18.452.648.398.641.803.441 Gaucher Disease .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System .
C18.452.648.595.554.825 Sphingolipidoses .
C18.452.648.595.554.825.400 Gaucher Disease .
L01 Information Science .
L01.453 Information Services .
L01.453.245 Documentation .
L01.453.245.945 Vocabulary, Controlled .
SP4 Environmental Health .
SP4.011 Science .
SP4.011.127 Social Sciences .
SP4.011.127.428 Information Science .
SP4.011.127.428.809 Vocabulary, Controlled .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Metabolic Diseases .
Diseases, Metabolic .
Disease, Metabolic .
Metabolic Disease .
Thesaurismoses .
Thesaurismosis .
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) .
1.00
4109686
 
Vocabulary, Controlled .
Controlled Thesauri .
Controlled Thesaurus .
Thesauri .
Controlled Vocabularies .
Thesauri, Controlled .
Thesaurus, Controlled .
Vocabularies, Controlled .
Controlled Vocabulary .
Thesaurus .
Thesauri .
A specified list of terms with a fixed and unalterable meaning, and from which a selection is made when CATALOGING; ABSTRACTING AND INDEXING; or searching BOOKS; JOURNALS AS TOPIC; and other documents. The control is intended to avoid the scattering of related subjects under different headings (SUBJECT HEADINGS). The list may be altered or extended only by the publisher or issuing agency. (From Harrod's Librarians' Glossary, 7th ed, p163) .
0.77
463292
 
Gaucher Disease .
Acid beta-Glucosidase Deficiency .
Acid beta-Glucosidase Deficiency Disease .
Acute Neuronopathic Gaucher Disease .
Chronic Gaucher Disease .
GBA Deficiency .
Gaucher Disease Type 3 .
Gaucher Disease, Acute Neuronopathic .
Gaucher Disease, Acute Neuronopathic Type .
Gaucher Disease, Chronic .
Gaucher Disease, Chronic Neuronopathic Type .
Gaucher Disease, Infantile .
Gaucher Disease, Infantile Cerebral .
Gaucher Disease, Juvenile .
Gaucher Disease, Juvenile and Adult, Cerebral .
Gaucher Disease, Neuronopathic .
Gaucher Disease, Non-Neuronopathic Form .
Gaucher Disease, Noncerebral Juvenile .
Gaucher Disease, Subacute Neuronopathic Form .
Gaucher Disease, Subacute Neuronopathic Type .
Gaucher Disease, Type 1 .
Gaucher Disease, Type 2 .
Gaucher Disease, Type 3 .
Gaucher Disease, Type I .
Gaucher Disease, Type II .
Gaucher Disease, Type III .
Gaucher Splenomegaly .
Gaucher Syndrome .
Gaucher's Disease .
Gauchers Disease .
Glucocerebrosidase Deficiency .
Glucocerebrosidosis .
Glucosyl Cerebroside Lipidosis .
Glucosylceramidase Deficiency .
Glucosylceramide Beta-Glucosidase Deficiency .
Glucosylceramide Lipidosis .
Infantile Gaucher Disease .
Kerasin Histiocytosis .
Kerasin Lipoidosis .
Kerasin thesaurismosis .
Lipoid Histiocytosis (Kerasin Type) .
Non-Neuronopathic Gaucher Disease .
Subacute Neuronopathic Gaucher Disease .
Type 1 Gaucher Disease .
Type 2 Gaucher Disease .
Type 3 Gaucher Disease .
Cerebroside Lipidoses, Glucosyl .
Cerebroside Lipidosis Syndromes .
Cerebroside Lipidosis, Glucosyl .
Deficiencies, GBA .
Deficiencies, Glucocerebrosidase .
Deficiency Disease, Glucocerebrosidase .
Deficiency Diseases, Glucocerebrosidase .
Deficiency, GBA .
Deficiency, Glucocerebrosidase .
Disease, Chronic Gaucher .
Disease, Gaucher .
Disease, Gaucher's .
Disease, Gauchers .
Disease, Glucocerebrosidase Deficiency .
Disease, Infantile Gaucher .
Disease, Juvenile Gaucher .
Disease, Neuronopathic Gaucher .
Disease, Non-Neuronopathic Gaucher .
Diseases, Gauchers .
Diseases, Glucocerebrosidase Deficiency .
GBA Deficiencies .
Gaucher Disease, Non Neuronopathic Form .
Gaucher Disease, Non-Neuronopathic .
Gauchers Diseases .
Glucocerebrosidase Deficiencies .
Glucocerebrosidase Deficiency Diseases .
Glucocerebrosidoses .
Glucosyl Cerebroside Lipidoses .
Glucosylceramide Lipidoses .
Histiocytoses, Kerasin .
Histiocytoses, Lipoid (Kerasin Type) .
Histiocytosis, Kerasin .
Histiocytosis, Lipoid (Kerasin Type) .
Juvenile Gaucher Disease .
Kerasin Histiocytoses .
Kerasin Lipoidoses .
Kerasin thesaurismoses .
Lipidoses, Glucosyl Cerebroside .
Lipidoses, Glucosylceramide .
Lipidosis Syndrome, Cerebroside .
Lipidosis Syndromes, Cerebroside .
Lipidosis, Glucosyl Cerebroside .
Lipidosis, Glucosylceramide .
Lipoid Histiocytoses (Kerasin Type) .
Lipoidoses, Kerasin .
Lipoidosis, Kerasin .
Non Neuronopathic Gaucher Disease .
Splenomegaly, Gaucher .
Syndrome, Cerebroside Lipidosis .
Syndrome, Gaucher .
Syndromes, Cerebroside Lipidosis .
thesaurismoses, Kerasin .
thesaurismosis, Kerasin .
Cerebroside Lipidosis Syndrome .
Glucocerebrosidase Deficiency Disease .
Glucosylceramide Beta-Glucosidase Deficiency Disease .
Neuronopathic Gaucher Disease .
Gaucher Disease Type 1 .
Gaucher Disease Type 2 .
GAUCHER'S DISEASE .
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. .
0.76
813964
 
Tangier Disease .
Alpha High Density Lipoprotein Deficiency Disease .
Cholesterol Thesaurismosis .
HDLDT1 .
High Density Lipoprotein Deficiency, Tangier Type .
High Density Lipoprotein Deficiency, Type 1 .
High-Density Lipoprotein Deficiency, Tangier Type .
High-Density Lipoprotein Deficiency, Type I .
Neuropathy of Tangier Disease .
Tangier Hereditary Neuropathy .
A-alphalipoprotein Neuropathies .
Analphalipoproteinemias .
Cholesterol Thesaurismoses .
High Density Lipoprotein Deficiency, Type I .
Neuropathies, A-alphalipoprotein .
Neuropathy, A-alphalipoprotein .
Thesaurismoses, Cholesterol .
Thesaurismosis, Cholesterol .
Analphalipoproteinemia .
A-alphalipoprotein Neuropathy .
Tangier Disease Neuropathy .
An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD. .
0.75
3491