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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
Hypomyelination with atrophy of basal ganglia and cerebellum syndrome
H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
Id724283004
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van cerebellum
Associated morphologyatrophia
Finding sitestructuur van basaal ganglion
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map139441
SNOMED CT to ICD-10 extended map
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