SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1162839003
http://purl.bioontology.org/ontology/SNOMEDCT/1162839003
Preferred Name

XK aprosencephaly syndrome

Definitions
A rare syndromic type of cerebral malformation with characteristics of aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (such as ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (such as hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies.
Synonyms
Garcia Lurie syndrome
XK syndrome
XK aprosencephaly syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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