Immunoglobulin Heavy Chain Deletion

Preferred Label : Immunoglobulin Heavy Chain Deletion;

NCIt definition : A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas.;

Details

Origin ID

C27141;

UMLS CUI

C0398692;

Automatic exact mappings (from CISMeF team)
- B cell deficiency [DO Concept]
Currated CISMeF NLP mapping
- Immunoglobulin heavy chain deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunoglobulin heavy chain deficiency [ORDO Disease]
- Immunoglobulin heavy chain deficiency (disorder) [SNOMED CT concept]
disease_mapped_to_gene
- Immunoglobulin Heavy Locus [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients