| syndroom van leukencefalopathie, ataxie, hypodontie en hypomyelinisatie (aandoening) | | syndroom van leukencefalopathie, ataxie, hypodontie en hypomyelinisatie | | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | | Ataxia, delayed dentition, hypomyelination syndrome
| | Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. |
| | Id | 764095005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 137639 |
| SNOMED CT to ICD-10 extended map | | Target | E75.2 | | Rule | TRUE | | Advice | ALWAYS E75.2 | 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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