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Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder)
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
Pilarowski Bjornsson syndrome
A rare syndromic intellectual disability with characteristics of developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.
Id1217382002
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified