725394006: Autosomal recessive ataxia due to ubiquinone deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Cerebellar ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive ataxia due to ubiquinone deficiency
• \Disease\Metabolic disease\Mitochondrial cytopathy\Autosomal recessive ataxia due to ubiquinone deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3442815018	Autosomal recessive ataxia due to ubiquinone deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3442816017	Autosomal recessive ataxia due to ubiquinone deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3442817014	ARCA2 - autosomal recessive cerebellar ataxia type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3442818016	Autosomal recessive ataxia due to coenzyme Q10 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3442819012	Autosomal recessive spinocerebellar ataxia type 9	en	Synonym	Active	Case insensitive	SNOMED CT core
3442820018	Syndrome with characteristics of childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present. The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene on chromosome 1q42 have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast. The syndrome is transmitted as an autosomal recessive trait.	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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