Deletion of part of long arm of chromosome 5
Developmental disorder
Seizure disorder
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5q31.3 microdeletion syndrome (disorder)
5q31.3 microdeletion syndrome
Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion
Id768555009
StatusPrimitive
Associated morphologyPartial monosomy
Finding siteLong arm of chromosome
OccurrenceCongenital
Associated morphologyPartial monosomy
Finding siteChromosome pair 5
OccurrenceCongenital
Finding siteBrain structure
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified