SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719047001
http://purl.bioontology.org/ontology/SNOMEDCT/719047001
Preferred Name

14q11.2 microdeletion syndrome

Definitions
A recently described syndrome with characteristics of developmental delay, hypotonia and facial dysmorphism. It has been clinically and molecularly described in 3 patients. All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and similar auricular anomalies. This syndrome is caused by an interstitial deletion encompassing 14q11.2.
Synonyms
Monosomy 14q11.2
14q11.2 microdeletion syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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