Autosomal recessive hereditary disorder
Autosomal recessive hereditary disorder
Central nervous system complication
Degenerative brain disorder
Degenerative brain disorder
Disorder of valine metabolism
Disorder of valine metabolism
Hereditary degenerative disease of central nervous system
Hereditary metabolic disease
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Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)
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.
neurodegeneratie door deficiëntie van 3-hydroxyisobutyryl-co-enzym A-hydrolase
neurodegeneratie door 3-hydroxyisobutyryl-CoA-hydrolasedeficiëntie
Id722488009
StatusPrimitive
Due toDeficiency of 3-hydroxyisobutyryl CoA hydrolase
Due toDeficiency of 3-hydroxyisobutyryl CoA hydrolase
Associated morphologyDegenerative abnormality
Finding siteBrain tissue structure
Finding siteBrain tissue structure
ICD-10 complex map reference set
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