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familial dysfibrinogenemia

^ http://purl.obolibrary.org/obo/MONDO_0014452

Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. [ Orphanet:98881 ]

Term info

database cross reference
  • NCIT:C131659 (MONDO:equivalentTo)
  • ICD9:286.3 (MONDO:relatedTo)
  • GARD:0002004 (MONDO:equivalentTo)
  • OMIM:616004 (Orphanet:98881/e)
  • SCTID:111589005 (MONDO:equivalentTo)
  • UMLS:CN207171 (MONDO:equivalentTo)
  • UMLS:C1260903 (NCIT:C131659)
  • Orphanet:98881 (OMIM:616004)
Subsets

gard_rare, ordo_clinical_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.

exactMatch

http://identifiers.org/snomedct/111589005, http://purl.obolibrary.org/obo/Orphanet_98881, http://linkedlifedata.com/resource/umls/id/C1260903, http://linkedlifedata.com/resource/umls/id/CN207171, http://purl.obolibrary.org/obo/NCIT_C131659, https://omim.org/entry/616004

has exact synonym

dysfibrinogenemia, hypodysfibrinogenemia, familial dysfibrinogenemia

has related synonym

dysfibrinogenemia, familial, dysfibrinogenemia, congenital, hypodysfibrinogenemia, congenital, congenital dysfibrinogenemia

id

MONDO:0014452

seeAlso

https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia

Term relations