| X-gebonden syndroom van Dandy-Walker-malformatie, verstandelijke beperking, basalegangliaziekte en epileptische aanvallen (aandoening) | | X-gebonden syndroom van Dandy-Walker-malformatie, verstandelijke beperking, basalegangliaziekte en epileptische aanvallen | | X-gebonden syndroom van Dandy-Walker-malformatie, verstandelijke handicap, basalegangliaziekte en insulten
X-gebonden syndroom van Dandy-Walker-malformatie, mentale retardatie, basalegangliaziekte en convulsies
| | Pettigrew syndrome | | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
| | A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. |
| | Id | 719139003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1568 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | 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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