1303280001: Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5305753014	Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5305754015	PUM1-related cerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5305755019	Pumilio RNA binding family member 1-related cerebellar ataxia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5305756018	Adult-onset spinocerebellar ataxia type 47	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5305757010	Adult-onset SCA47 (spinocerebellar ataxia type 47)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5305758017	A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5305753014	Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5305754015	PUM1-related cerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5305755019	Pumilio RNA binding family member 1-related cerebellar ataxia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5305756018	Adult-onset spinocerebellar ataxia type 47	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5305757010	Adult-onset SCA47 (spinocerebellar ataxia type 47)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5305758017	A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start