SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/770750002
http://purl.bioontology.org/ontology/SNOMEDCT/770750002
Preferred Name

Intellectual disability, seizures, macrocephaly, obesity syndrome

Definitions
A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Synonyms
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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