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Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder)
QRICH1-related intellectual disability, chondrodysplasia syndrome
Ververi Brady syndrome
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip and low-set cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported.
Id1220568003
StatusPrimitive
Has interpretationBelow reference range
InterpretsBody height
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
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