22q partial monosomy
Genetic disease
Global developmental delay
Neurodevelopmental delay
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22q13.3 deletion syndrome (disorder)
22q13.3 deletion syndrome
Phelan-McDermid syndrome
Monosomy 22q13
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
Id699310000
StatusPrimitive
Associated morphologyPartial monosomy
Finding siteLong arm of chromosome
OccurrenceCongenital
Associated morphologyPartial monosomy
Finding siteChromosome pair 22
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified