1172588008: Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Degenerative disorder\Progressive muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Distal spinal muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Progressive muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy 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\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Distal spinal muscular atrophy\Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4634487013 Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4634488015 Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5399330017 A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399331018 A rare genetic neurodegenerative disease characterised by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. 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
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Is a	Distal spinal muscular atrophy	true	Inferred relationship	Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Is a	Progressive muscular atrophy	true	Inferred relationship	Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	3
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4634487013	Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634488015	Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399330017	A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399331018	A rare genetic neurodegenerative disease characterised by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core