Familial hemophagocytic lymphohistiocytosis type 1

Definition

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.

Also known as familial hemophagocytic lymphohistiocytosis type 1, familial HLH, FHL1, HLH1, HPLH1 — per MONDO

Also identified as

• DOID 0110921 per MONDO
• NCIT C61276 per MONDO
• OMIM 267700 per MONDO
• UMLS C4551514 per MONDO