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Niemann-Pick Diseases MeSH Descriptor Data 2022


MeSH Heading
Niemann-Pick Diseases
Tree Number(s)
C10.228.140.163.100.435.825.700
C15.604.250.410.625
C16.320.565.189.435.825.700
C16.320.565.398.641.803.730
C16.320.565.595.554.825.700
C18.452.132.100.435.825.700
C18.452.584.563.641.803.730
C18.452.648.189.435.825.700
C18.452.648.398.641.803.730
C18.452.648.595.554.825.700
Unique ID
D009542
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D009542
Annotation
note specific types are available
Scope Note
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Entry Version
NIEMANN PICK DIS
Entry Term(s)
Niemann-Pick Disease
See Also
Sea-Blue Histiocyte Syndrome
Sphingomyelin Phosphodiesterase
Public MeSH Note
2000; see NIEMANN-PICK DISEASE 1966-1999
History Note
2000(1966)
Date Established
2000/01/01
Date of Entry
1999/01/01
Revision Date
2021/07/01
Niemann-Pick Diseases Preferred
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