10p13-p14 Deletion Syndrome

Preferred Label : 10p13-p14 Deletion Syndrome;

NCIt related terms : DGS2; DiGeorge Syndrome Type 2;

Alternative definition : NICHD: A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections.;

Details

Origin ID

C130982;

UMLS CUI

C1832431;

Currated CISMeF NLP mapping
- Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 [MeSH Supplementary Concept]
- Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 [MeSH concept]
- Digeorge syndrome/velocardiofacial syndrome complex 2 [OMIM Phenotype]
- Distal monosomy 10p [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 [MeSH Supplementary Concept]
- Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 [MeSH concept]
- Digeorge syndrome/velocardiofacial syndrome complex 2 [OMIM Phenotype]
- Distal monosomy 10p [ORDO Disease]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 10 [NCIt concept]

Keyword's position in hierarchy(ies) :

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