SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1260203008
http://purl.bioontology.org/ontology/SNOMEDCT/1260203008
Preferred Name

EVEN-plus syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed.
Synonyms
EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome
Type http://www.w3.org/2002/07/owl#Class
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