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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.
Id764095005
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van cerebrum
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified