SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/773621003
http://purl.bioontology.org/ontology/SNOMEDCT/773621003
Preferred Name

Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome

Definitions
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.
Synonyms
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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