Chédiak-Higashi syndrome

Preferred Label : Chédiak-Higashi syndrome;

ICD-11 definition : This syndrome is caused by mutations in the LYST gene. It consists of partial OCA, immunodeficiency, mild bleeding tendency and lymphoproliferative infiltration of bone marrow and reticuloendothelial system.;

ICD-11 synonym : Chediak-Higashi-Steinbrinck syndrome; Steinbrinck anomaly; Béguez César syndrome; Chediak-Steinbrinck syndrome;

Details

Origin ID

880927849;

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 [NCIt concept]
- 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 (disorder) [SNOMED CT concept]
- chediak-higashi syndrome [MeSH Descriptor]
- chediak-higashi syndrome [SNOMED Notion]
See also inter- (CISMeF)
- neutropenia and hyperlymphocytosis with large granular lymphocytes [MeSH Supplementary 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 [NCIt concept]
- 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 (disorder) [SNOMED CT concept]
- chediak-higashi syndrome [MeSH Descriptor]
- chediak-higashi syndrome [SNOMED Notion]

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