autosomaal recessieve hereditaire aandoening	complicatie van centraal zenuwstelsel	degeneratieve aandoening van hersenen	hereditaire degeneratieve aandoening van centraal zenuwstelsel	stoornis van metabolisme van valine
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neurodegeneratie door deficiëntie van 3-hydroxyisobutyryl-co-enzym A-hydrolase (aandoening)
	neurodegeneratie door deficiëntie van 3-hydroxyisobutyryl-co-enzym A-hydrolase
	neurodegeneratie door 3-hydroxyisobutyryl-CoA-hydrolasedeficiëntie
	Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
	HIBCH-gene related deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Valine metabolic defect Methacrylic aciduria
	Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.

Id	722488009
Status	Primitive

Due to

deficiëntie van 3-hydroxyisobutyrylco-enzym-A-hydrolase

Associated morphology	degeneratieve afwijking
Finding site	structuur van encephalon

SNOMED CT to ICD-10 extended map

Target	E71.1
Rule	TRUE
Advice	ALWAYS E71.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified