| Global developmental delay, intellectual disability, facial dysmorphism, pseudo Pelger-Huët anomaly syndrome (disorder) | | Global developmental delay, intellectual disability, facial dysmorphism, pseudo Pelger-Huët anomaly syndrome | | TMEM147-related neurodevelopmental disorder
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, severe language delay/absence of language and impaired motor skills. All affected individuals present with dysmorphic features including coarse facies, prominent forehead, board depressed nasal root, long smooth philtrum, tented mouth, and low-set ears. Behavioral problems including tendency of self-injury, hyperactivity, aggressivity, and outbursts of anger are reported in the majority of the patients. Defects in nuclear lobulation, reminiscent of Pelger-Huët anomaly are frequently detected in cytological examinations. |
| | Id | 1396404004 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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