Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described. Disease data Classification Disease Synonyms Chédiak-Higashi disease Choroba Chédiaka i Higashiego Zespół Chédiaka, Higashiego i Steinbrinka Chédiak-Higashi-Steinbrink syndrome ORPHA code 167 OMIM code 214500 ICD10 code E70.3 ICD11 code EC23.20 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl