SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1260142000
http://purl.bioontology.org/ontology/SNOMEDCT/1260142000
Preferred Name

Congenital vertebral, cardiac, renal anomalies syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability and sensorineural hearing loss among others.
Synonyms
Congenital vertebral, cardiac, renal anomalies syndrome (disorder)
Congenital NAD deficiency disorder
Type http://www.w3.org/2002/07/owl#Class
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