MeSH Browser

MeSH Supplementary: Absence of Tibia
Unique ID: C535563
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535563
Entry Term(s): Bilateral absence of the tibia; Tibia, absence of; Tibial hemimelia
Registry Number: 0
Heading Mapped to: *Ectromelia; Tibia / *abnormalities
Frequency: 30
Note: A rare autosomal recessive anomaly characterized by deficiency of the tibia with relatively intact FIBULA. It may present as an isolated anomaly or be associated with a variety of skeletal and extraskeletal malformations. Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex (OMIM: 228250) and triphalangeal thumb-polysyndactyly syndrome (OMIM: 174500). OMIM: 275220
Date of Entry: 2010/06/25
Revision Date: 2015/09/25

Concept UI: M0530024
Registry Number: 0
Terms: Absence of Tibia Preferred Term
Term UI T736515
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Tibial hemimelia
Term UI T736517
Date02/24/2009
LexicalTag NON
ThesaurusID; Tibia, absence of
Term UI T736519
Date02/24/2009
LexicalTag NON
ThesaurusID; Bilateral absence of the tibia
Term UI T736516
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

Absence of Tibia MeSH Supplementary Concept Data 2024