Autosomal dominant hereditary disorder	Cerebellar ataxia	Cerebral atrophy	Degenerative disorder of basal ganglia	Disorder of basal ganglia	Hereditary ataxia	Hereditary cerebellar degeneration	TUBB4A-related leukodystrophy
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Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
	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
	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.
	hypomyeliniserende leukodystrofie met atrofie van basale ganglia en cerebellum
	H-ABC

Id	724283004
Status	Primitive

Associated morphology	Dystrophy
Finding site	White matter structure of brain and spinal cord

Associated morphology	Atrophy
Finding site	Cerebellar structure

Associated morphology	Atrophy
Finding site	Basal ganglion structure

Associated morphology	Myelin sheath alteration
Finding site	Myelinated nerve fiber structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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

Target	G31.8
Rule	TRUE
Advice	ALWAYS G31.8
Correlation	SNOMED CT source code to target map code correlation not specified