autosomaal dominante hereditaire aandoening	cerebellaire ataxie	cerebrale atrofie	degeneratieve aandoening van basale ganglia	hereditaire ataxie	hereditaire cerebellaire degeneratie	leukodystrofie bij mutatie in bètatubuline 4A klasse IVa
\|	\|	\|	\|	\|	\|	\|

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
	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.

Id	724283004
Status	Primitive

Associated morphology	dystrofie
Finding site	structuur van substantia alba van hersenen en ruggenmerg

Associated morphology	atrophia
Finding site	structuur van cerebellum

Associated morphology	atrophia
Finding site	structuur van basaal ganglion

Associated morphology	verandering van myelineschede
Finding site	structuur van gemyeliniseerde zenuwvezel

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E75.2
Term	Overige gespecificeerde sfingolipidosen

Target	G31.8
Term	Overige gespecificeerde degeneratieve ziekten van zenuwstelsel

SNOMED CT to Orphanet simple map

139441

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

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