WHIM - [Warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome

Preferred Label : WHIM - [Warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome;

ICD-11 definition : Whim syndrome is the acronym for Warts, Hypogammaglobulinemia, Infections, Myelokathexis. It is a genetic syndrome with dominant autosomal inheritance characterized by chronic neutropenia associated with bone marrow hypercellularity (myelokathexis).;

ICD-11 synonym : Warts-hypogammaglobulinaemia-infections-myelokathexis; WHIM syndrome;

CISMeF acronym : WHIM;

Details

Origin ID

1379907958;

UMLS CUI

C0472817;

Automatic exact mappings (from CISMeF team)
- CXCR4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- WHIM syndrome [MeSH Supplementary Concept]
- WHIM syndrome [PASCAL descriptor]
- WHIM syndrome [ORDO Disease]
- WHIM syndrome [MeSH concept]
- WHIM syndrome [DO Concept]
- WHIM syndrome [Disease (Nov.)]
- WHIM syndrome [MedDRA LLT]
- Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome [NCIt concept]
- 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 syndrome [DO Concept]
- WHIM syndrome [MeSH concept]
- WHIM syndrome [MeSH Supplementary Concept]
- WHIM syndrome [Disease (Nov.)]
- WHIM syndrome [ORDO Disease]
- WHIM syndrome [PASCAL descriptor]
- WHIM syndrome [MedDRA LLT]
- Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome [NCIt concept]
- Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) [SNOMED CT concept]
- Whim syndrome 1 [OMIM Phenotype]

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