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. |
| Id | 1220568003 | Status | Primitive |
ICD-10 complex map reference set | Target | Q87.0 | Rule | TRUE | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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