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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
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.
Id722488009
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE71.1
RuleTRUE
AdviceALWAYS E71.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified