DISEASES Eye Diseases [C11] Eye Diseases Eye Diseases, Hereditary [C11.270] Eye Diseases, Hereditary Albinism [C11.270.040] Albinism Albinism, Ocular [C11.270.040.090] Albinism, Ocular Albinism, Oculocutaneous [C11.270.040.545] Albinism, Oculocutaneous Chediak-Higashi Syndrome [C11.270.040.772] Chediak-Higashi Syndrome Aleutian Mink Disease [C11.270.040.772.270] Aleutian Mink Disease DISEASES Hemic and Lymphatic Diseases [C15] Hemic and Lymphatic Diseases Hematologic Diseases [C15.378] Hematologic Diseases Leukocyte Disorders [C15.378.553] Leukocyte Disorders Phagocyte Bactericidal Dysfunction [C15.378.553.774] Phagocyte Bactericidal Dysfunction Chediak-Higashi Syndrome [C15.378.553.774.257] Chediak-Higashi Syndrome Granulomatous Disease, Chronic [C15.378.553.774.535] Granulomatous Disease, Chronic Job Syndrome [C15.378.553.774.600] Job Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C16.320.798.250] Ataxia Telangiectasia Bloom Syndrome [C16.320.798.313] Bloom Syndrome Chediak-Higashi Syndrome [C16.320.798.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C16.320.798.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C16.320.798.625] Hyper-IgM Immunodeficiency Syndrome Job Syndrome [C16.320.798.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C16.320.798.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C16.320.798.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C16.320.798.875] Wiskott-Aldrich Syndrome DISEASES Immune System Diseases [C20] Immune System Diseases Immunologic Deficiency Syndromes [C20.673] Immunologic Deficiency Syndromes Phagocyte Bactericidal Dysfunction [C20.673.774] Phagocyte Bactericidal Dysfunction Chediak-Higashi Syndrome [C20.673.774.257] Chediak-Higashi Syndrome Aleutian Mink Disease [C20.673.774.257.270] Aleutian Mink Disease Granulomatous Disease, Chronic [C20.673.774.535] Granulomatous Disease, Chronic Job Syndrome [C20.673.774.600] Job Syndrome DISEASES Immune System Diseases [C20] Immune System Diseases Immunologic Deficiency Syndromes [C20.673] Immunologic Deficiency Syndromes Primary Immunodeficiency Diseases [C20.673.795] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C20.673.795.250] Ataxia Telangiectasia Bloom Syndrome [C20.673.795.313] Bloom Syndrome Chediak-Higashi Syndrome [C20.673.795.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C20.673.795.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C20.673.795.625] Hyper-IgM Immunodeficiency Syndrome Job Syndrome [C20.673.795.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C20.673.795.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C20.673.795.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C20.673.795.875] Wiskott-Aldrich Syndrome

Chediak-Higashi Syndrome - Preferred

Concept UI	M0003997
Scope note	A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Preferred term	Chediak-Higashi Syndrome
Entry term(s)	Chediak Higashi Syndrome Chediak Steinbrinck Higashi Syndrome Chediak-Steinbrinck-Higashi Syndrome Chediak-Steinbrinck-Higashi Syndromes Oculocutaneous Albinism with Leukocyte Defect