Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Preferred Label : Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DNMT3B gene, encoding DNA (cytosine-5)-methyltransferase 3B. It is characterized by immunoglobulin deficiency, centromeric instability of chromosomes 1,9, and 19 (rarely chromosome 2), and facial dysmorphism.;

Details

Origin ID

C156430;

UMLS CUI

C4551557;

Currated CISMeF NLP mapping
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [OMIM Phenotype]
- immunodeficiency-centromeric instability-facial anomalies syndrome 1 [DO Concept]
See also inter- (CISMeF)
- ICF syndrome [ORDO Disease]
- Immunodeficiency syndrome, variable [MeSH concept]
- immunodeficiency syndrome, variable [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder) [SNOMED CT concept]
- Immunodeficiency - centromeric region instability - facial anomalies syndrome [ICD-11 More detail]
- immunodeficiency, centromere instability and facial anomalies syndrome [Disease (Nov.)]
- immunodeficiency-centromeric instability-facial anomalies syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DNMT3B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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