SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1197754004
http://purl.bioontology.org/ontology/SNOMEDCT/1197754004
Preferred Name

Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome

Definitions
A rare syndromic oesophageal malformation characterised by severe congenital brachyoesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.
Synonyms
Serpentine-like syndrome
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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