Nijmegen breakage syndrome

Preferred Label : Nijmegen breakage syndrome;

ICD-11 definition : Nijmegen breakage syndrome is a rare DNA repair disorder presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.;

ICD-11 synonym : AT V1- [Ataxia-telangiectasia, variant 1]; NBS - [Nijmegen breakage syndrome]; Ataxia-telangiectasia, variant 1; Microcephaly - immunodeficiency - lymphoreticuloma; Berlin breakage syndrome; Autosomal recessive nonsyndromal microcephaly with normal intelligence; Immunodeficiency - microcephaly - chromosomal instability; Seemanova syndrome type 2;

ICD-11 acronym : AT V1; NBS;

Details

Origin ID

1925662580;

UMLS CUI

C0398791;

Automatic exact mappings (from CISMeF team)
- NBN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Microcephaly, normal intelligence and immunodeficiency (disorder) [SNOMED CT concept]
- Nijmegen Breakage Syndrome [NCIt concept]
- Nijmegen breakage syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [PASCAL descriptor]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [MedDRA Preferred Term]
- Nijmegen breakage syndrome [ORDO Disease]
- Nijmegen breakage syndrome [Disease (Nov.)]
- nijmegen breakage syndrome [MeSH concept]
- nijmegen breakage syndrome [MeSH Descriptor]
False automatic mappings
- NeuroBlate System [NCIt concept]
- Nibrin [NCIt concept]
- nibrin [ORDO Gene]
See also inter- (CISMeF)
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
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 [NCIt concept]
- Nijmegen breakage syndrome [DO Concept]
- Nijmegen breakage syndrome [MedDRA Preferred Term]
- Nijmegen breakage syndrome [OMIM Phenotype]
- Nijmegen breakage syndrome [Disease (Nov.)]
- Nijmegen breakage syndrome [ORDO Disease]
- Nijmegen breakage syndrome [PASCAL descriptor]
- nijmegen breakage syndrome [MeSH Descriptor]
- nijmegen breakage syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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