Niemann-Pick disease, type C

Preferred Label : Niemann-Pick disease, type C;

MeSH definition : 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.; 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 the NPC1 gene, which encodes a protein that mediates 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.;

MeSH synonym : niemann-pick disease without sphingomyelinase deficiency; niemann-pick disease with cholesterol esterification block; niemann pick's disease type c; niemann-pick's disease type c; neurovisceral storage disease with vertical supranuclear ophthalmoplegia; niemann pick disease with cholesterol esterification block; niemann pick disease without sphingomyelinase deficiency; niemann-pick disease, chronic neuronopathic form; niemann pick disease, chronic neuronopathic form; niemann pick disease, type C; Niemann-Pick Type C Disease; Niemann Pick Type C Disease; Niemann-Pick Disease Type C; Niemann Pick Disease Type C;

CISMeF synonym : Niemann-Pick's disease, type C;

MeSH hyponym : niemann pick disease, type C1; Niemann-Pick disease, type C1; Niemann-Pick disease, type D; Niemann-Pick disease, Subacute Juvenile Form; Niemann Pick disease, Subacute Juvenile Form; Niemann Pick Disease, Type D; Nova Scotia Niemann-Pick Disease (Type D); Nova Scotia Niemann Pick Disease (Type D); Niemann-Pick's Disease Type D; Niemann Pick's Disease Type D; Nova Scotia (Type D) Form of Niemann-Pick Disease; Niemann-Pick Disease Type D; Niemann Pick Disease Type D; Niemann-Pick Disease, Nova Scotian; Niemann Pick Disease, Nova Scotian; Niemann-Pick Type D Disease; Niemann Pick Type D Disease;

Details

Origin ID

D052556;

UMLS CUI

C0220756;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-Pick Disease, Type C [NCIt concept]
- Niemann-Pick disease type C [ICD-11 More detail]
- Niemann-Pick disease type C [ORDO Disease]
- Niemann-Pick disease, type C [TUV Concept]
- Niemann-Pick disease, type C (disorder) [SNOMED CT concept]
- niemann-pick disease, type c [SNOMED Notion]
Manual BTNT mappings - CISMeF
- Niemann-Pick disease type C, adult neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, juvenile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, late infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe early infantile neurologic onset [ORDO Disease]
- Niemann-Pick disease type C, severe perinatal form [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral lipidosis with dementia [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Lipid storage disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Supranuclear eye movement disorder [ORDO Disease]
- Tauopathy with a major tau triplet at 60, 64 and 69 kDa [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Niemann-Pick disease type C [ORDO Disease]
Record concept(s)
- Niemann-Pick disease, type C [MeSH concept]
- Niemann-Pick disease, type C1 [MeSH concept]
- Niemann-Pick disease, type D [MeSH concept]
Related MeSH Supplementary Concept(s)
- Niemann-Pick disease, nova scotian type [MeSH Supplementary Concept]
- Niemann-Pick disease, type C2 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- NPC intracellular cholesterol transporter 1 [ORDO Gene]
- Niemann Pick disease type D [Disease (Nov.)]
- Niemann-Pick disease type D [ORDO Disease]
- Niemann-Pick disease, type D (disorder) [SNOMED CT concept]
- niemann-pick disease, type a [SNOMED Notion]
- niemann-pick disease, type b [SNOMED Notion]
- niemann-pick disease, type d [SNOMED Notion]
- niemann-pick disease, type e [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-Pick Disease, Type C [NCIt concept]
- Niemann-Pick disease type C [ORDO Disease]
- Niemann-Pick disease type C [ICD-11 More detail]
- Niemann-Pick disease, type C [TUV Concept]
- Niemann-Pick disease, type C (disorder) [SNOMED CT concept]
- niemann-pick disease, type c [SNOMED Notion]
Validated automatic mappings to BTNT
- Niemann-Pick Disease, Type C1 [NCIt concept]
- Niemann-Pick disease type C1 [DO Concept]
- Niemann-pick disease, type c1 [OMIM Phenotype]

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