SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/721146009
http://purl.bioontology.org/ontology/SNOMEDCT/721146009
Preferred Name

Intellectual disability, epilepsy, bulbous nose syndrome

Definitions
This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.
Synonyms
Hernandez Aguirre Negrete syndrome
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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