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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
4634488015 Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome en Synonym Active Case insensitive SNOMED CT core
4634489011 A rare genetic neurodegenerative disease with characteristics of 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a Distal spinal muscular atrophy true Inferred relationship Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a Progressive muscular atrophy true Inferred relationship Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Clinical course Progressive true Inferred relationship Some 2
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Finding site Structure of nervous system true Inferred relationship Some 1
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Associated morphology Atrophy true Inferred relationship Some 1
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a Chronic brain syndrome true Inferred relationship Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Occurrence Infancy true Inferred relationship Some 3
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Finding site Brain structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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