SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1229891004
http://purl.bioontology.org/ontology/SNOMEDCT/1229891004
Preferred Name

20q11.2 microdeletion syndrome

Definitions
A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported.
Synonyms
20q11.2 microdeletion syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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