1237413006: Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Cerebellar ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Cerebellar ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disorder of head\Encephalopathy\...
• \Cerebellar disorder\Cerebellar ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Ear and auditory finding\Hearing finding\Decreased hearing\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Functional finding\Decline in functional status\Decreased hearing\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Functional finding\Hearing finding\Decreased hearing\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099042016	Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5099043014	Lichtenstein Knorr syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5099046018	SCAR19 - spinocerebellar ataxia, autosomal recessive 19	en	Synonym	Active	Case sensitive	SNOMED CT core
5099048017	Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5099049013	Progressive autosomal recessive ataxia, deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5099047010	A rare genetic disease with characteristics of severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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