has part has part has_part realized in realized in metabolic process disease course Chédiak-Higashi syndrome orphanet MedDRA:10008415 CHS MESH:D002609 UMLS:C0007965 Gautier Koscielny 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. Chédiak-Higashi-Steinbrink syndrome OMIM:214500 Chediak - Steinbrinck anomaly DOID:2935 Chediak-Higashi syndrome Chédiak-Higashi disease ICD10:E70.3 ORDO:167 Genetic hypopigmentation of the skin Genetic immune deficiency with skin involvement Genetic neurodegenerative disease Rare hereditary disease with peripheral neuropathy Constitutional neutropenia with extra-haematopoietic manifestations Immunodeficiency syndrome with hypopigmentation Platelet storage pool disease Pigmentation disorder with eye involvement