MeSH Browser

MeSH Supplementary: Schmid-Fraccaro syndrome
Unique ID: C535918
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535918
Entry Term(s): Cat Eye syndrome; Chromosome 22 partial tetrasomy; INV DUP(22)(Q11)
Registry Number: 0
Heading Mapped to: *Aneuploidy; Chromosomes, Human, Pair 22; *Eye Abnormalities; *Chromosome Disorders
Frequency: 33
Note: A disorder resulting from a supernumerary chromosome 22q11 region . It is characterized by COLOBOMA of the IRIS; HYPERTELORISM, downslanting palpebral fissures, ANAL ATRESIA with FISTULA, ear abnormalities, and heart and renal malformations. Intellectual development is normal to near-normal. OMIM: 115470
Date of Entry: 2010/11/13
Revision Date: 2015/08/18

Concept UI: M0530379
Registry Number: 0
Terms: Schmid-Fraccaro syndrome Preferred Term
Term UI T737657
Date02/24/2009
LexicalTag EPO
ThesaurusID; INV DUP(22)(Q11)
Term UI T737660
Date02/24/2009
LexicalTag NON
ThesaurusID; Chromosome 22 partial tetrasomy
Term UI T737659
Date02/24/2009
LexicalTag NON
ThesaurusID; Cat Eye syndrome
Term UI T737656
Date02/24/2009
LexicalTag NON
ThesaurusID

Schmid-Fraccaro syndrome MeSH Supplementary Concept Data 2024