Nijmegen breakage syndrome-like disorder

Preferred Label : Nijmegen breakage syndrome-like disorder;

ICD-11 synonym : Microcephaly or chromosomal instability without immunodeficiency; NBS-like disorder; NBSLD - [Nijmegen breakage syndrome-like disorder];

ICD-11 acronym : NBSLD;

Details

Origin ID

1014526672;

UMLS CUI

C2751318;

Currated CISMeF NLP mapping
- Nijmegen Breakage Syndrome-Like Disorder [NCIt concept]
- Nijmegen breakage syndrome-like disorder [OMIM Phenotype]
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
- Nijmegen breakage syndrome-like disorder (disorder) [SNOMED CT concept]
- nijmegen breakage Syndrome-Like disorder [MeSH Supplementary Concept]
- nijmegen breakage Syndrome-Like disorder [MeSH concept]
See also inter- (CISMeF)
- RAD50 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nijmegen Breakage Syndrome-Like Disorder [NCIt concept]
- Nijmegen breakage syndrome-like disorder [OMIM Phenotype]
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
- Nijmegen breakage syndrome-like disorder (disorder) [SNOMED CT concept]
- nijmegen breakage Syndrome-Like disorder [MeSH concept]
- nijmegen breakage Syndrome-Like disorder [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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