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1172584005: Childhood-onset basal ganglia degeneration syndrome (disorder)


Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634472015 Childhood-onset basal ganglia degeneration syndrome en Synonym Active Case insensitive SNOMED CT core
4634473013 Childhood-onset basal ganglia degeneration syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4634474019 Lenk Ploski syndrome en Synonym Active Case sensitive SNOMED CT core
4634475018 A rare genetic neurodegenerative disease with characteristics of sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Childhood-onset basal ganglia degeneration syndrome Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome Is a Dystonia true Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome Is a Cerebral degeneration in childhood true Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome Is a Disorder of basal ganglia true Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome Is a Chronic brain syndrome true Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome Clinical course Progressive true Inferred relationship Some 2
Childhood-onset basal ganglia degeneration syndrome Interprets Movement true Inferred relationship Some 3
Childhood-onset basal ganglia degeneration syndrome Occurrence Childhood true Inferred relationship Some 1
Childhood-onset basal ganglia degeneration syndrome Finding site Basal ganglion structure true Inferred relationship Some 1
Childhood-onset basal ganglia degeneration syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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