784343003: Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)

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

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763695011	ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3763696012	Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3763697015	Autosomal recessive spastic ataxia type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3763698013	Autosomal recessive spastic ataxia with leukoencephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3763699017	SPAX3 - autosomal recessive spastic ataxia type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
3789567015	Autosomal recessive spastic ataxia with leucoencephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3789568013	ARSAL - autosomal recessive spastic ataxia with leucoencephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3763700016	A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leukoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.	en	Definition	Active	Case sensitive	SNOMED CT core
3789569017	A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leucoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.	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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