JSON

Erdheim-Chester disease

^ http://purl.obolibrary.org/obo/MONDO_0018153

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. [ Orphanet:35687 ]

Term info

database cross reference
  • DOID:4329 (MONDO:equivalentTo)
  • GARD:0006369 (MONDO:equivalentTo)
  • MESH:D031249 (Orphanet:35687/e)
  • ONCOTREE:ECD (MONDO:equivalentTo)
  • Orphanet:35687 (MONDO:equivalentTo)
  • UMLS:C0878675 (Orphanet:35687/e)
  • ICD9:277.89 (MONDO:relatedTo)
  • NCIT:C53972 (MONDO:exact-label-match)
  • SCTID:699537002 (MONDO:equivalentTo)
  • EFO:1000926 (MONDO:equivalentTo)
  • MedDRA:10060801 (Orphanet:35687/e)
Subsets

ordo_disease

abbreviation
ECD [ ONCOTREE:ECD ]

closeMatch

http://identifiers.org/meddra/10060801

definition

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.

exactMatch

http://purl.obolibrary.org/obo/DOID_4329, http://identifiers.org/mesh/D031249, http://purl.obolibrary.org/obo/NCIT_C53972, http://purl.obolibrary.org/obo/Orphanet_35687, http://linkedlifedata.com/resource/umls/id/C0878675, http://identifiers.org/snomedct/699537002

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005509

has exact synonym

lipogranulomatosis, polyostotic sclerosing histiocytosis, Erdheim-Chester disease

has related synonym

lipoid granulomatosis, Erdheim Chester disease, ECD

id

MONDO:0018153