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sea-blue histiocyte syndrome

^ http://purl.obolibrary.org/obo/MONDO_0010017

A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. [ NCIT:P378 ]

Term info

database cross reference
  • SCTID:37821003 (MONDO:equivalentTo)
  • MESH:D012618 (MONDO:equivalentTo)
  • Orphanet:158029 (OMIM:269600)
  • DOID:4423 (MONDO:equivalentTo)
  • UMLS:C0036489 (Orphanet:158029/e)
  • GARD:0008241 (MONDO:equivalentTo)
  • NCIT:C85062 (MONDO:equivalentTo)
  • OMIM:269600 (Orphanet:158029/e)
  • EFO:1001170 (MONDO:equivalentTo)
Subsets

ordo_disease, clingen

definition

A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_158029, http://identifiers.org/snomedct/37821003, https://omim.org/entry/269600, http://purl.obolibrary.org/obo/NCIT_C85062, http://purl.obolibrary.org/obo/DOID_4423, http://identifiers.org/mesh/D012618, http://linkedlifedata.com/resource/umls/id/C0036489

has related synonym

inherited Lipemic splenomegaly, sea-blue histiocytosis, SEA-blue histiocyte disease, histiocytosis, Sea-blue

id

MONDO:0010017