| Descriptor English: | Niemann-Pick Diseases | ||||||
| Descriptor Spanish: |
Enfermedades de Niemann-Pick
| ||||||
| Descriptor Portuguese: | Doenças de Niemann-Pick | ||||||
| Descriptor French: | Maladies de Niemann-Pick | ||||||
| Entry term(s): |
Niemann Pick Disease Niemann Pick Diseases Niemann-Pick Disease |
||||||
| 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 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009542 | ||||||
| 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. |
||||||
| Annotation: | note specific types are available |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Public MeSH Note: | 2000; see NIEMANN-PICK DISEASE 1966-1999 |
||||||
| History Note: | 2000(1966) |
||||||
| Entry Version: | NIEMANN PICK DIS |
||||||
| Related: |
Sea-Blue Histiocyte Syndrome
MeSH Sphingomyelin Phosphodiesterase MeSH | ||||||
| DeCS ID: | 28196 | ||||||
| Unique ID: | D009542 | ||||||
| NLM Classification: | WD 205.5.L5 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
|
|
Niemann-Pick Diseases
- Preferred
| Concept UI |
M0014846 |
| 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. |
| Preferred term | Niemann-Pick Diseases |
| Entry term(s) |
Niemann Pick Disease Niemann Pick Diseases Niemann-Pick Disease |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
