Concept information
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Preferred term
Sea-Blue Histiocyte Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Disease, Sea-Blue Histiocyte
- Diseases, Sea-Blue Histiocyte
- Histiocyte Disease, Sea-Blue
- Histiocyte Diseases, Sea-Blue
- Histiocyte Syndrome, Sea Blue
- Histiocyte Syndromes, Sea Blue
- Histiocytoses, Sea Blue
- Histiocytoses, Sea-Blue
- Histiocytosis, Sea Blue
- Histiocytosis, Sea-Blue
- Sea Blue Histiocyte Disease
- Sea-Blue Histiocyte Disease
- Sea-Blue Histiocyte Diseases
- Sea Blue Histiocytoses
- Sea-Blue Histiocytoses
- Sea Blue Histiocytosis
- Sea-Blue Histiocytosis
Scope note
- A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.
History note
- 1984
In other languages
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Finnish
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merisini-histiosyyttisairaus
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merisini-histiosyyttisyndrooma
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merisini-histiosyyttitauti
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sea-blue histiocyte disease
URI
http://www.yso.fi/onto/mesh/D012618
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