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 disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-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\PUM1-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\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disorder of head\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\PUM1-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\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\PUM1-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\PUM1-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\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\PUM1-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\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\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\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\PUM1-associated developmental disability, ataxia, seizure syndrome
• \Disease\Developmental disorder\Developmental delay\PUM1-associated developmental disability, ataxia, seizure syndrome

Status: current, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159126016	PADDAS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5159127013	SCA47 - spinocerebellar ataxia type 47	en	Synonym	Active	Case sensitive	SNOMED CT core
5159128015	Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5159129011	Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5159130018	PUM1-associated developmental disability, ataxia, seizure syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5159140015	A rare genetic syndromic intellectual disability characterised by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioural abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core
5159141016	A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and more variably seizures and short stature. Behavioral abnormalities may also be observed, along with variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum or posterior fossa abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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