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11q22.2q22.3 microdeletion syndrome (disorder)
11q22.2q22.3 microdeletion syndrome
Monosomy 11q22.2q22.3
A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.
Id1229882003
StatusPrimitive
Has interpretationBelow reference range
InterpretsBody height measure
Associated morphologyPartial monosomy
Finding siteChromosome pair 11
OccurrenceCongenital
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDeletion of long arm
Finding siteChromosome pair 11
OccurrenceCongenital
ICD-10 complex map reference set
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified