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hereditary hemophagocytic lymphohistiocytosis

Go to external page 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 ]

Synonyms: familial hemophagocytic lymphohistiocytosis primary hemophagocytic lymphohistiocytosis genetic hemophagocytic lymphohistiocytosis genetic hemophagocytic syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:398250003 (MONDO:equivalentTo)
  • OMIMPS:267700 (https://orcid.org/0000-0002-6601-2165)
  • MEDGEN:78797 (MONDO:equivalentTo)
  • UMLS:C0272199 (MONDO:equivalentTo)
  • Orphanet:540 (MONDO:equivalentTo)
  • ICD9:238.79 (MONDO:relatedTo)
  • GARD:6589 (MONDO:GARD)
  • MedDRA:10070904 (Orphanet:158038/e)
Subsets

ordo_disorder, gard_rare, otar, disease_grouping, rare, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10070904

exactMatch

https://omim.org/phenotypicSeries/PS267700

http://identifiers.org/medgen/78797

http://linkedlifedata.com/resource/umls/id/C0272199

http://www.orpha.net/ORDO/Orphanet_540

http://identifiers.org/snomedct/398250003

id

MONDO:0015541