Chediak-Higashi syndrome
ICD-10 Code
E70.330
Chediak-Higashi syndrome
Definition
ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
Also known as ChC)diak-Higashi disease, ChC)diak-Higashi-Steinbrink syndrome, Chediak Higashi Syndrome, Chédiak-Higashi disease, Chediak-Higashi syndrome, Chédiak-Higashi-Steinbrink syndrome, CHS — per MONDO