Nijmegen Breakage Syndrome

Preferred Label : Nijmegen Breakage Syndrome;

NCIt definition : A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99);

Details

Origin ID

C4692;

UMLS CUI

C0398791;

Currated CISMeF NLP mapping
- Microcephaly, normal intelligence and immunodeficiency (disorder) [SNOMED CT concept]
- Nijmegen breakage syndrome [Disease (Nov.)]
- Nijmegen breakage syndrome [PASCAL descriptor]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [ICD-11 More detail]
- Nijmegen breakage syndrome [MedDRA Preferred Term]
- Nijmegen breakage syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [ORDO Disease]
- nijmegen breakage syndrome [MeSH Descriptor]
- nijmegen breakage syndrome [MeSH concept]
DO Cross reference
- Nijmegen breakage syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly, normal intelligence and immunodeficiency (disorder) [SNOMED CT concept]
- Nijmegen breakage syndrome [ORDO Disease]
- Nijmegen breakage syndrome [MedDRA Preferred Term]
- Nijmegen breakage syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [PASCAL descriptor]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [Disease (Nov.)]
- Nijmegen breakage syndrome [ICD-11 More detail]
- nijmegen breakage syndrome [MeSH Descriptor]
- nijmegen breakage syndrome [MeSH concept]
associated_with_malfunction_of_gene_product
- Nibrin [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_gene
- NBN Gene [NCIt concept]
- NBN wt Allele [NCIt concept]
disease_mapped_to_gene
- NBN Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- NBN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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