| syndroom van verstandelijke beperking, expressieve afasie en faciale dysmorfie (aandoening) | | syndroom van verstandelijke beperking, expressieve afasie en faciale dysmorfie | | syndroom van verstandelijke handicap, motorische afasie en dysmorfie van aangezicht
| | Intellectual disability, expressive aphasia, facial dysmorphism syndrome | | Intellectual disability, loss of expressive language, facial dysmorphism syndrome
| | A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties and seizures. |
| | Id | 1197593006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 436151 |
| SNOMED CT to ICD-10 extended map | | 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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