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Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.
Id1197591008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPlanovalgus
Finding siteFoot structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified