| Descriptor English: | Niemann-Pick Diseases | ||||||
| Descriptor Spanish: |
Enfermedades de Niemann-Pick
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| Descriptor Portuguese: | Doenças de Niemann-Pick | ||||||
| Descriptor French: | Maladies de Niemann-Pick | ||||||
| Entry term(s): |
ASM Deficiencies ASM Deficiency ASM Deficient Niemann Pick Disease ASM-Deficient Niemann-Pick Disease ASM-Deficient Niemann-Pick Diseases Acid Sphingomyelinase Deficiency Acid Sphingomyelinase deficient Niemann Pick Disease Acid Sphingomyelinase-deficient Niemann-Pick Disease Deficiencies, ASM Deficiencies, Acid Sphingomyelinase Deficiency, ASM Deficiency, Acid Sphingomyelinase Disease, ASM-Deficient Niemann-Pick Diseases, ASM-Deficient Niemann-Pick Niemann Pick Disease Niemann Pick Diseases Niemann-Pick Disease Niemann-Pick Disease, ASM-Deficient Niemann-Pick Diseases, ASM-Deficient Sphingomyelinase Deficiencies, Acid Sphingomyelinase Deficiency, Acid |
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| 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 |
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| 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. |
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| Annotation: | note specific types are available |
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| 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 |
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| Public MeSH Note: | 2000; see NIEMANN-PICK DISEASE 1966-1999 |
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| History Note: | 2000(1966) |
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| Entry Version: | NIEMANN PICK DIS |
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| 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: | 2023/05/31 |
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Niemann-Pick Diseases
- Preferred
Acid Sphingomyelinase-deficient Niemann-Pick Disease
- Narrower
ASM-Deficient Niemann-Pick Disease
- Narrower
| 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 |
| Concept UI |
M000763277 |
| Preferred term | Acid Sphingomyelinase-deficient Niemann-Pick Disease |
| Entry term(s) |
Acid Sphingomyelinase Deficiency Acid Sphingomyelinase deficient Niemann Pick Disease Deficiencies, Acid Sphingomyelinase Deficiency, Acid Sphingomyelinase Sphingomyelinase Deficiencies, Acid Sphingomyelinase Deficiency, Acid |
| Concept UI |
M000763278 |
| Preferred term | ASM-Deficient Niemann-Pick Disease |
| Entry term(s) |
ASM Deficiencies ASM Deficiency ASM Deficient Niemann Pick Disease ASM-Deficient Niemann-Pick Diseases Deficiencies, ASM Deficiency, ASM Disease, ASM-Deficient Niemann-Pick Diseases, ASM-Deficient Niemann-Pick Niemann-Pick Disease, ASM-Deficient Niemann-Pick Diseases, ASM-Deficient |
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