| syndroom van verstandelijke beperking, autisme, spraakapraxie en craniofaciale dysmorfie (aandoening) | | syndroom van verstandelijke beperking, autisme, spraakapraxie en craniofaciale dysmorfie | | syndroom van verstandelijke handicap, autisme, apraxie van spraak en craniofaciale dysmorfie
Pilarowski-Bjornsson-syndroom
| | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome | | Pilarowski Bjornsson syndrome
| | A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated. |
| | Id | 1217382002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| 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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