722488009: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disorder of head\Encephalopathy\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of valine metabolism\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3332443017	Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3332444011	Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3332445012	Methacrylic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
3332446013	Valine metabolic defect	en	Synonym	Active	Case insensitive	SNOMED CT core
3332447016	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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