MeSH Browser

MeSH Supplementary: Telomeric 22q13 Monosomy Syndrome
Unique ID: C536801
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536801
Entry Term(s): 22q13 Deletion Syndrome; 22q13.3 Deletion Syndrome; Chromosome 22q13.3 Deletion Syndrome; Deletion 22q13 Syndrome; Deletion 22q13.3 Syndrome; Monosomy 22q13; Phelan-McDermid Syndrome
Registry Number: 0
Heading Mapped to: *Chromosome Deletion; Chromosomes, Human, Pair 22; *Chromosome Disorders
Frequency: 150
Note: A developmental disorder caused by heterozygous deletion of the portion of chromosome 22 that includes the SHANK3 gene, or by mutations in SHANK3. It is characterized by neonatal HYPOTONIA, normal to accelerated growth, LANGUAGE DEVELOPMENT DISORDERS, autistic behavior, and minor dysmorphic features. OMIM: 606232.
Date of Entry: 2010/08/25
Revision Date: 2016/07/05

Concept UI: M0535862
Registry Number: 0
Terms: Telomeric 22q13 Monosomy Syndrome Preferred Term
Term UI T844517
Date05/22/2013
LexicalTag NON
ThesaurusID; 22q13 Deletion Syndrome
Term UI T840755
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Deletion 22q13 Syndrome
Term UI T840756
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Monosomy 22q13
Term UI T840758
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Chromosome 22q13.3 Deletion Syndrome
Term UI T844515
Date05/22/2013
LexicalTag NON
ThesaurusID; 22q13.3 Deletion Syndrome
Term UI T844516
Date05/22/2013
LexicalTag NON
ThesaurusID; Phelan-McDermid Syndrome
Term UI T771314
Date05/14/2010
LexicalTag EPO
ThesaurusID; Deletion 22q13.3 Syndrome
Term UI T840757
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Telomeric 22q13 Monosomy Syndrome MeSH Supplementary Concept Data 2024