B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations

Preferred Label : B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations;

MeSH synonym : BILU syndrome;

Origin ID

C563745;

UMLS CUI

C1836437;

Currated CISMeF NLP mapping
- B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [OMIM Phenotype]
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) [SNOMED CT concept]
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [OMIM Phenotype]
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) [SNOMED CT concept]