| Descriptor English: | Niemann-Pick Disease, Type A | ||||||
| Descriptor Spanish: |
Enfermedad de Niemann-Pick Tipo A
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| Descriptor Portuguese: | Doença de Niemann-Pick Tipo A | ||||||
| Descriptor French: | Maladie de Niemann-Pick de type A | ||||||
| Entry term(s): |
Cholesterol Lipidoses, Neuronal Cholesterol Lipidoses, Sphingomyelin Cholesterol Lipidosis, Neuronal Cholesterol Lipidosis, Sphingomyelin Classical Niemann Pick Disease Classical Niemann-Pick Disease Deficiencies, Sphingomyelinase Deficiency, Sphingomyelinase Lipidoses, Neuronal Cholesterol Lipidoses, Sphingomyelin Lipidoses, Sphingomyelin Cholesterol Lipidosis, Neuronal Cholesterol Lipidosis, Sphingomyelin Lipidosis, Sphingomyelin Cholesterol Neuronal Cholesterol Lipidoses Neuronal Cholesterol Lipidosis Niemann Pick Disease, Acute Neuronopathic Form Niemann Pick Disease, Acute Neurovisceral Form Niemann Pick Disease, Neuronopathic Type Niemann Pick Disease, Type A Niemann Pick's Disease Type A Niemann-Pick Disease, Acute Neuronopathic Form Niemann-Pick Disease, Acute Neurovisceral Form Niemann-Pick Disease, Classical Niemann-Pick Disease, Neuronopathic Type Niemann-Pick's Disease Type A Ophthalmoplegia, Supraoptic Vertical Ophthalmoplegias, Supraoptic Vertical Sphingomyelin Cholesterol Lipidoses Sphingomyelin Cholesterol Lipidosis Sphingomyelin Lipidoses Sphingomyelin Lipidosis Sphingomyelinase Deficiencies Sphingomyelinase Deficiency Sphingomyelinase Deficiency Disease Sphingomyelinase Deficiency Diseases Supraoptic Vertical Ophthalmoplegia Supraoptic Vertical Ophthalmoplegias Type A Niemann Pick Disease Type A Niemann-Pick Disease Vertical Ophthalmoplegia, Supraoptic Vertical Ophthalmoplegias, Supraoptic |
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| Tree number(s): |
C10.228.140.163.100.435.825.700.500 C15.604.250.410.625.500 C16.320.565.189.435.825.700.500 C16.320.565.398.641.803.730.500 C16.320.565.595.554.825.700.500 C18.452.132.100.435.825.700.500 C18.452.584.563.641.803.730.500 C18.452.648.189.435.825.700.500 C18.452.648.398.641.803.730.500 C18.452.648.595.554.825.700.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D052536 | ||||||
| Scope note: | The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage. |
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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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| Previous Indexing: |
Niemann-Pick Diseases (1997-2006) |
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| Public MeSH Note: | 2007; see NIEMANN-PICK DISEASES 2000-2006 |
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| History Note: | 2007; use NIEMANN-PICK DISEASES 2000-2006 |
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| Entry Version: | NIEMANN PICK DIS TYPE A |
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| DeCS ID: | 52105 | ||||||
| Unique ID: | D052536 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2007/01/01 | ||||||
| Date of Entry: | 2006/07/05 | ||||||
| Revision Date: | 2015/10/20 |
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Niemann-Pick Disease, Type A
- Preferred
| Concept UI |
M0335783 |
| Scope note | The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage. |
| Preferred term | Niemann-Pick Disease, Type A |
| Entry term(s) |
Cholesterol Lipidoses, Neuronal Cholesterol Lipidoses, Sphingomyelin Cholesterol Lipidosis, Neuronal Cholesterol Lipidosis, Sphingomyelin Classical Niemann Pick Disease Classical Niemann-Pick Disease Deficiencies, Sphingomyelinase Deficiency, Sphingomyelinase Lipidoses, Neuronal Cholesterol Lipidoses, Sphingomyelin Lipidoses, Sphingomyelin Cholesterol Lipidosis, Neuronal Cholesterol Lipidosis, Sphingomyelin Lipidosis, Sphingomyelin Cholesterol Neuronal Cholesterol Lipidoses Neuronal Cholesterol Lipidosis Niemann Pick Disease, Acute Neuronopathic Form Niemann Pick Disease, Acute Neurovisceral Form Niemann Pick Disease, Neuronopathic Type Niemann Pick Disease, Type A Niemann Pick's Disease Type A Niemann-Pick Disease, Acute Neuronopathic Form Niemann-Pick Disease, Acute Neurovisceral Form Niemann-Pick Disease, Classical Niemann-Pick Disease, Neuronopathic Type Niemann-Pick's Disease Type A Ophthalmoplegia, Supraoptic Vertical Ophthalmoplegias, Supraoptic Vertical Sphingomyelin Cholesterol Lipidoses Sphingomyelin Cholesterol Lipidosis Sphingomyelin Lipidoses Sphingomyelin Lipidosis Sphingomyelinase Deficiencies Sphingomyelinase Deficiency Sphingomyelinase Deficiency Disease Sphingomyelinase Deficiency Diseases Supraoptic Vertical Ophthalmoplegia Supraoptic Vertical Ophthalmoplegias Type A Niemann Pick Disease Type A Niemann-Pick Disease Vertical Ophthalmoplegia, Supraoptic Vertical Ophthalmoplegias, Supraoptic |
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