sea-blue histiocyte syndrome

Preferred Label : sea-blue histiocyte syndrome;

MeSH definition : 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.;

MeSH synonym : histiocyte syndromes, sea blue; histiocyte syndromes, sea-blue; histiocytoses, sea blue; histiocytosis, sea blue; histiocytosis, sea-blue; sea-blue histiocyte syndromes; Diseases, Sea-Blue Histiocyte; histiocyte syndrome, sea-blue; syndrome, sea-blue histiocyte; syndromes, sea-blue histiocyte; sea blue histiocytosis; sea blue histiocytoses; Sea-Blue Histiocyte Disease; Disease, Sea-Blue Histiocyte; Histiocyte Disease, Sea-Blue; Histiocyte Diseases, Sea-Blue; Sea Blue Histiocyte Disease; Sea-Blue Histiocyte Diseases; histiocyte syndrome, sea blue; histiocytoses, sea-blue; sea-blue histiocytoses; sea-blue histiocytosis; sea blue histiocyte syndrome;

Details

Origin ID

D012618;

UMLS CUI

C0036489;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Sea-blue histiocytosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Sea-Blue Histiocyte Syndrome [NCIt concept]
- Sea-blue histiocyte disease [OMIM Phenotype]
- Sea-blue histiocyte syndrome (disorder) [SNOMED CT concept]
- Sea-blue histiocytosis [HPO term]
- Sea-blue histiocytosis [ORDO Disease]
- sea blue histiocyte syndrome [Disease (Nov.)]
- sea-blue histiocyte syndrome [SNOMED Notion]
- sea-blue histiocytosis [DO Concept]
DO Cross reference
- sea-blue histiocytosis [DO Concept]
HPO term
- Sea-blue histiocytosis [HPO term]
Has phenotype(s) (HPO)
- Mild thrombocytopenia [HPO term]
Record concept(s)
- Sea-Blue histiocyte syndrome [MeSH concept]
See also
- niemann-pick diseases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sea-Blue Histiocyte Syndrome [NCIt concept]
- Sea-blue histiocyte disease [OMIM Phenotype]
- Sea-blue histiocyte syndrome (disorder) [SNOMED CT concept]
- Sea-blue histiocytosis [HPO term]
- Sea-blue histiocytosis [ORDO Disease]
- sea blue histiocyte syndrome [Disease (Nov.)]
- sea-blue histiocyte syndrome [SNOMED Notion]
- sea-blue histiocytosis [DO Concept]

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