chediak-higashi syndrome

Preferred Label : chediak-higashi syndrome;

MeSH definition : 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.;

MeSH synonym : chediak higashi syndrome; oculocutaneous albinism with leukocyte defect; Chediak-Steinbrinck-Higashi syndrome; Chediak Steinbrinck Higashi Syndrome; Chediak-Steinbrinck-Higashi Syndromes;

CISMeF synonym : chediak-higashi's syndrome; Syndrome, Chediak-Steinbrinck-Higashi; Syndromes, Chediak-Steinbrinck-Higashi; syndrome, chediak-higashi;

MeSH annotation : a form of phagocyte bactericidal dysfunct;

Détails

Origin ID

D002609;

UMLS CUI

C0007965;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Albinism [ICD-10 Sub-category (who)]
- Chediak syndrome [PASCAL descriptor]
- Hypopigmentation-immunodeficiency disease (disorder) [SNOMED CT concept]
- psychiatric hospital [CISMeF Querying Strategy]
Currated CISMeF NLP mapping
- Chediak Higashi syndrome [Disease (Nov.)]
- Chediak-Higashi Syndrome [NCIt concept]
- Chediak-Higashi syndrome [DO Concept]
- Chediak-Higashi syndrome [MedDRA Preferred Term]
- 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 [SNOMED Notion]
DO Cross reference
- Chediak-Higashi syndrome [DO Concept]
False automatic mappings
- Griscelli syndrome [ORDO Disease]
Indexing information
- NBEA protein, human [MeSH Supplementary Concept]
- nbea protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Brain inflammatory disease [ORDO Disease]
- Constitutional neutropenia [ORDO Disease]
- Dense granule disease [ORDO Disease]
- Genetic immune deficiency with skin involvement [ORDO Disease]
- Immune deficiency with skin involvement [ORDO Disease]
- Pigmentation disorder with eye involvement [ORDO Disease]
- Primary hemophagocytic lymphohistiocytosis [ORDO Disease]
- Rare hereditary disease with peripheral neuropathy [ORDO Disease]
ORDO relation(s)
- Chédiak-Higashi syndrome [ORDO Disease]
Record concept(s)
- Chediak-Higashi syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- neutropenia and hyperlymphocytosis with large granular lymphocytes [MeSH Supplementary Concept]
See also
- albinism [MeSH Descriptor]
- aleutian mink disease [MeSH Descriptor]
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 [NCIt concept]
- Chediak-Higashi syndrome [MedDRA Preferred Term]
- Chediak-Higashi syndrome [DO 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]

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