783060009: syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand (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)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)

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

\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)

\Late onset cerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)

\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Late onset cerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757283016 Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3757284010 Autosomal recessive cerebellar ataxia, psychomotor delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3757285011 Autosomal recessive spinocerebellar ataxia type 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

8227911000146113 syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8227921000146115 syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8227941000146114 autosomaal recessieve spinocerebellaire ataxie type 11 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8795921000146113 ARCA11 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3757286012 A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. 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
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	2
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Is a	Late onset cerebellar ataxia	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Is a	Spinocerebellar ataxia	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Is a	Chronic disorder of spinal cord (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets