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


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

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


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 Existential restriction modifier
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a Progressive muscular atrophy true Inferred relationship Existential restriction modifier
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier 2
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 1
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Associated morphology Atrophy true Inferred relationship Existential restriction modifier 1
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a Chronic brain syndrome true Inferred relationship Existential restriction modifier
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier 3
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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