MeSH Browser

MeSH Supplementary: 13q deletion syndrome
Unique ID: C535484
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535484
Entry Term(s): Chromosome 13q deletion; Chromosome 13q deletion syndrome; Chromosome 13q monosomy; Chromosome 13q syndrome; Deletion 13q; Deletion 13q syndrome; Monosomy 13q; Monosomy 13q syndrome; Orbeli syndrome; Orbeli's syndrome
Registry Number: 0
Heading Mapped to: *Chromosome Deletion; Chromosomes, Human, Pair 13; *Chromosome Disorders
Frequency: 83
Note: Condition caused by loss of the q arm of chromosome 13, resulting in RETINOBLASTOMA, varying degrees of intellectual disability, and characteristic FACIES defined by a high forehead, prominent lips, and anteverted earlobes. OMIM: 613884
Date of Entry: 2010/06/25
Revision Date: 2016/08/01

Concept UI: M0535827
Registry Number: 0
Terms: 13q deletion syndrome Preferred Term
Term UI T736248
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Orbeli syndrome
Term UI T736243
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Orbeli's syndrome
Term UI T736249
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Deletion 13q syndrome
Term UI T736247
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Monosomy 13q syndrome
Term UI T736242
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Chromosome 13q deletion syndrome
Term UI T736245
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

Concept UI: M0529945
Registry Number: 0
Terms: Chromosome 13q deletion Preferred Term
Term UI T736239
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Monosomy 13q
Term UI T736241
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Chromosome 13q monosomy
Term UI T736246
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Deletion 13q
Term UI T736240
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

13q deletion syndrome MeSH Supplementary Concept Data 2024