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 genetic hemophagocytic lymphohistiocytosis primary hemophagocytic lymphohistiocytosis genetic hemophagocytic syndrome
Term information
- UMLS:C0272199 (Orphanet:158038/e)
- ICD9:238.79 (MONDO:relatedTo)
- GARD:20025 (Orphanet:158038)
- GARD:6589 (Orphanet:540)
- Orphanet:540 (MONDO:equivalentTo)
- Orphanet:158038 (MONDO:equivalentTo)
- MedDRA:10070904 (Orphanet:158038/e)
- SCTID:398250003 (MONDO:equivalentTo)
- OMIMPS:267700 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
https://omim.org/phenotypicSeries/PS267700
http://www.orpha.net/ORDO/Orphanet_158038
http://linkedlifedata.com/resource/umls/id/C0272199
http://www.orpha.net/ORDO/Orphanet_540
http://identifiers.org/snomedct/398250003