JSON

genetic hemophagocytic lymphohistiocytosis

^ http://purl.obolibrary.org/obo/MONDO_0015541

An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual. [ MONDO:patterns/hereditary ]

Term info

database cross reference
  • Orphanet:158038 (MONDO:equivalentTo)
  • Orphanet:540 (MONDO:equivalentTo)
  • ICD9:238.79 (MONDO:relatedTo)
  • MedDRA:10070904 (Orphanet:158038/e)
  • SCTID:398250003 (MONDO:equivalentTo)
  • OMIMPS:267700 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10070904

definition

An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.

exactMatch

https://omim.org/phenotypicSeries/PS267700, http://purl.obolibrary.org/obo/Orphanet_158038, http://purl.obolibrary.org/obo/Orphanet_540, http://identifiers.org/snomedct/398250003

has exact synonym

familial hemophagocytic lymphohistiocytosis, primary hemophagocytic lymphohistiocytosis, genetic hemophagocytic lymphohistiocytosis, genetic hemophagocytic syndrome

id

MONDO:0015541