Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome

Preferred Label : Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome;

NCIt synonyms : WHIM Syndrome; WHIMS;

NCIt related terms : WHIM;

NCIt definition : An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis.;

Détails

Origin ID

C176819;

UMLS CUI

C0472817;

Automatic exact mappings (from CISMeF team)
- Whim syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- WHIM - [Warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome [ICD-11 More detail]
- WHIM syndrome [ORDO Disease]
- WHIM syndrome [MeSH Supplementary Concept]
- WHIM syndrome [MeSH concept]
- WHIM syndrome [MedDRA LLT]
- WHIM syndrome [DO Concept]
- WHIM syndrome [Disease (Nov.)]
- WHIM syndrome [PASCAL descriptor]
- Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) [SNOMED CT concept]
- Whim syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- WHIM - [Warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome [ICD-11 More detail]
- WHIM syndrome [MeSH Supplementary Concept]
- WHIM syndrome [MeSH concept]
- WHIM syndrome [MedDRA LLT]
- WHIM syndrome [DO Concept]
- WHIM syndrome [Disease (Nov.)]
- WHIM syndrome [ORDO Disease]
- Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) [SNOMED CT concept]
disease_mapped_to_gene
- CXCR4 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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