Chediak-Higashi Syndrome

Preferred Label : Chediak-Higashi Syndrome;

NCIt definition : A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man.;

Alternative definition : NICHD: An autosomal recessive syndrome characterized by immune deficiency, partial oculocutaneous albinism, a bleeding disorder due to deficient platelet dense bodies, neutropenia, neutrophils with impaired chemotaxis and bactericidal activity, recurrent infection, and abnormal natural killer (NK) cell function.;

Details

Origin ID

C2941;

UMLS CUI

C0007965;

Automatic exact mappings (from CISMeF team)
- Hypopigmentation-immunodeficiency disease (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Chediak Higashi syndrome [Disease (Nov.)]
- Chediak-Higashi syndrome [DO Concept]
- Chediak-Higashi syndrome [MedDRA Preferred Term]
- Chediak-Higashi syndrome [MeSH concept]
- Chediak-higashi syndrome [OMIM Phenotype]
- Chédiak-Higashi syndrome [ICD-11 More detail]
- Chédiak-Higashi syndrome [ORDO Disease]
- Chédiak-Higashi syndrome (disorder) [SNOMED CT concept]
- chediak-higashi syndrome [MeSH Descriptor]
- chediak-higashi syndrome [SNOMED Notion]
DO Cross reference
- Chediak-Higashi syndrome [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Begnez Cesar disease [MedDRA LLT]
- Chediak Higashi syndrome [Disease (Nov.)]
- Chediak-Higashi syndrome [DO Concept]
- Chediak-Higashi syndrome [MedDRA Preferred Term]
- Chediak-Higashi syndrome [MeSH concept]
- Chediak-higashi syndrome [OMIM Phenotype]
- Chédiak-Higashi syndrome [ORDO Disease]
- Chédiak-Higashi syndrome [ICD-11 More detail]
- Chédiak-Higashi syndrome (disorder) [SNOMED CT concept]
- chediak-higashi syndrome [SNOMED Notion]
- chediak-higashi syndrome [MeSH Descriptor]
Validated automatic mappings to NTBT
- Griscelli syndrome [ORDO Disease]
associated_with_malfunction_of_gene_product
- Lysosomal-Trafficking Regulator [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_associated_gene
- LYST Gene [NCIt concept]
- LYST wt Allele [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- LYST Gene [NCIt concept]

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