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hypomyeliniserende leukodystrofie met atrofie van basale ganglia en cerebellum (aandoening)
hypomyeliniserende leukodystrofie met atrofie van basale ganglia en cerebellum
H-ABC
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum
Hypomyelination with atrophy of basal ganglia and cerebellum syndrome
Syndrome with characteristics of slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. So far, around 20 cases have been reported in the literature. The syndrome affects both males and females and onset occurs in infancy or early childhood. Caused by mutation in the TUBB4A gene on chromosome 19p13.
Id724283004
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van cerebellum
Associated morphologyatrophia
Finding sitestructuur van basale ganglia
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
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified