1303280001: 'pumilio RNA binding family member 1'-gerelateerde cerebellaire ataxie (aandoening)

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\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\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\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\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\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)

\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)

\Central nervous system finding\Finding of spinal cord\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\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\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\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\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\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\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-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\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\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\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-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder 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\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder 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\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder 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\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of body system\Disorder 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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\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\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\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

14894601000146112 spinocerebellaire ataxie type 47 beginnend op volwassen leeftijd nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14894611000146114 'pumilio RNA binding family member 1'-gerelateerde cerebellaire ataxie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14894621000146116 'pumilio RNA binding family member 1'-gerelateerde cerebellaire ataxie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14894631000146119 PUM1-gerelateerde cerebellaire ataxie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14894641000146110 SCA47 beginnend op volwassen leeftijd nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Is a	Spinocerebellar ataxia	true	Inferred relationship	Some
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Is a	Chronic disorder of spinal cord (disorder)	true	Inferred relationship	Some
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	2
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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