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771305006: Progressive polyneuropathy with bilateral striatal necrosis (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3705562016 Progressive polyneuropathy with bilateral striatal necrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3705563014 Progressive polyneuropathy with bilateral striatal necrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3705564015 A rare genetic disorder of thiamine metabolism and transport with characteristics of the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Caused by homozygous mutation in the SLC25A19 gene on chromosome 17q25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive polyneuropathy with bilateral striatal necrosis Is a Disorder of basal ganglia (disorder) true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a Polyneuropathy true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a Chronic brain syndrome true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Finding site Peripheral nerve structure true Inferred relationship Some 3
Progressive polyneuropathy with bilateral striatal necrosis Is a Traumatic or nontraumatic brain injury true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Associated morphology Necrosis true Inferred relationship Some 1
Progressive polyneuropathy with bilateral striatal necrosis Is a Chronic metabolic disorder true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Finding site Corpus striatum structure true Inferred relationship Some 1
Progressive polyneuropathy with bilateral striatal necrosis Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a Metabolic encephalopathy true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Clinical course (attribute) Progressive (qualifier value) true Inferred relationship Some 2
Progressive polyneuropathy with bilateral striatal necrosis Is a Necrosis of anatomical site true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a Lesion of brain true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a Injury of superficial nerves of head AND/OR neck true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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