NA (Sea-Blue Histiocyte Syndrome)

NA

En medfödd sjukdom orsakad av ett medfött fel som involverar APOLIPOPROTEINER E som leder till onormal LIPIDMETABOLISM och ackumulering av GLYKOSFINGOLIPIDER, särskilt SFINGOMYELINER i HISTIOCYTERNA. Denna störning kännetecknas av SPLENOMEGALI och de havsblå histiocyter i mjälte och benmärg efter May Grunwald-färgning.

Förklaring på engelska

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.

Synonym, svenska:

Synonym, engelska: Histiocyte Syndrome, Sea-Blue; Histiocyte Syndromes, Sea-Blue; Sea Blue Histiocyte Syndrome; Sea-Blue Histiocyte Syndromes; Syndrome, Sea-Blue Histiocyte; Syndromes, Sea-Blue Histiocyte; Histiocytosis, Sea-Blue; Histiocytoses, Sea-Blue; Histiocytosis, Sea Blue; Sea-Blue Histiocytoses; Histiocyte Syndrome, Sea Blue; Sea-Blue Histiocytosis; Sea-Blue Histiocyte Disease; Disease, Sea-Blue Histiocyte; Diseases, Sea-Blue Histiocyte; Histiocyte Disease, Sea-Blue; Histiocyte Diseases, Sea-Blue; Sea Blue Histiocyte Disease; Sea-Blue Histiocyte Diseases; Sea Blue Histiocytosis; Histiocytoses, Sea Blue; Sea Blue Histiocytoses; Histiocyte Syndromes, Sea Blue

Svensk term NA
Synonym på svenska
Synonym på engelska Histiocyte Syndrome, Sea-Blue; Histiocyte Syndromes, Sea-Blue; Sea Blue Histiocyte Syndrome; Sea-Blue Histiocyte Syndromes; Syndrome, Sea-Blue Histiocyte; Syndromes, Sea-Blue Histiocyte; Histiocytosis, Sea-Blue; Histiocytoses, Sea-Blue; Histiocytosis, Sea Blue; Sea-Blue Histiocytoses; Histiocyte Syndrome, Sea Blue; Sea-Blue Histiocytosis; Sea-Blue Histiocyte Disease; Disease, Sea-Blue Histiocyte; Diseases, Sea-Blue Histiocyte; Histiocyte Disease, Sea-Blue; Histiocyte Diseases, Sea-Blue; Sea Blue Histiocyte Disease; Sea-Blue Histiocyte Diseases; Sea Blue Histiocytosis; Histiocytoses, Sea Blue; Sea Blue Histiocytoses; Histiocyte Syndromes, Sea Blue
Engelsk term Sea-Blue Histiocyte Syndrome
MESH ID D012618

MESH-termer, förklaringar och definitioner kommer från NIH NLM. Förklaringar på svenska är gjort av KIB och MEDE.