11q partial monosomy syndrome
Developmental delay
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
Short stature disorder
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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.
Id
1229882003
Status
Primitive
Has interpretation
Below reference range
Interprets
Body height measure
Associated morphology
Partial monosomy
Finding site
Chromosome pair 11
Occurrence
Congenital
Associated morphology
Morphologically abnormal structure
Finding site
Face structure
Occurrence
Congenital
Pathological process
Pathological developmental process
Associated morphology
Deletion of long arm
Finding site
Chromosome pair 11
Occurrence
Congenital
ICD-10 complex map reference set
Target
Q93.5
Rule
TRUE
Advice
ALWAYS Q93.5
Correlation
SNOMED CT source code to target map code correlation not specified