1260097007: Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Disorder of brain\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disorder of head\Disorder of brain\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Disorder of brain\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Developmental disorder\Developmental delay\Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Dec 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159126016	PADDAS syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5159127013	SCA47 - spinocerebellar ataxia type 47	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5159128015	Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5159129011	Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5159130018	PUM1-associated developmental disability, ataxia, seizure syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start