MeSH Browser

MeSH Supplementary: Chromosome 18p deletion syndrome
Unique ID: C538309
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538309
Entry Term(s): 18p deletion syndrome; 18p minus syndrome; 18p- syndrome; Del(18p) syndrome; Deletion 18p syndrome
Registry Number: 0
Heading Mapped to: *Chromosome Deletion; Chromosomes, Human, Pair 18; *Chromosome Disorders
Frequency: 29
Note: A deletion of chromosome 18p region that manifests as autosomal dominant abnormalities characterized by INTELLECTUAL DISABILITY, growth retardation, craniofacial dysmorphism including round face which may lengthen with linear growth of the height of the face; dysplastic ears, wide mouth, dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart also occur. OMIM: 146390
Date of Entry: 2010/08/25
Revision Date: 2015/09/25

Concept UI: M0532770
Registry Number: 0
Terms: Chromosome 18p deletion syndrome Preferred Term
Term UI T745398
Date02/24/2009
LexicalTag NON
ThesaurusID; Del(18p) syndrome
Term UI T745403
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Deletion 18p syndrome
Term UI T745401
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); 18p- syndrome
Term UI T745402
Date02/24/2009
LexicalTag NON
ThesaurusID; 18p minus syndrome
Term UI T745399
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); 18p deletion syndrome
Term UI T745400
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

Chromosome 18p deletion syndrome MeSH Supplementary Concept Data 2024