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Erdheim-Chester disease

Go to external page 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 ]

Synonyms: lipogranulomatosis polyostotic sclerosing histiocytosis Erdheim-Chester disease Erdheim Chester Disease

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:277.89 (MONDO:relatedTo)
  • SCTID:699537002 (MONDO:equivalentTo)
  • Orphanet:35687 (MONDO:equivalentTo)
  • MedDRA:10060801 (Orphanet:35687/e)
  • UMLS:C0878675 (MONDO:equivalentTo)
  • NANDO:2200038 (https://orcid.org/0000-0003-0011-764X)
  • MESH:D031249 (Orphanet:35687/e)
  • NORD:1102 (MONDO:NORD)
  • EFO:1000926 (MONDO:equivalentTo)
  • DOID:4329 (MONDO:equivalentTo)
  • GARD:6369 (MONDO:GARD)
  • MEDGEN:163902 (MONDO:equivalentTo)
  • ONCOTREE:ECD (MONDO:equivalentTo)
  • NCIT:C53972 (MONDO:exact-label-match)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

abbreviation
ECD [ ONCOTREE:ECD ]

closeMatch

http://identifiers.org/meddra/10060801

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230)

exactMatch

http://purl.obolibrary.org/obo/DOID_4329

http://identifiers.org/medgen/163902

http://purl.obolibrary.org/obo/NCIT_C53972

http://identifiers.org/mesh/D031249

http://linkedlifedata.com/resource/umls/id/C0878675

http://www.orpha.net/ORDO/Orphanet_35687

http://identifiers.org/snomedct/699537002

excluded subClassOf

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

has related synonym

lipoid granulomatosis

Erdheim Chester disease

ECD

id

MONDO:0018153

term tracker item

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/6742