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771305006: polyneuropathie progressive avec nécrose striatale bilatérale (trouble)


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
3705562016 Progressive polyneuropathy with bilateral striatal necrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705563014 Progressive polyneuropathy with bilateral striatal necrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
770521000241111 polyneuropathie progressive avec nécrose striatale bilatérale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
888321000172115 polyneuropathie progressive avec nécrose striatale bilatérale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) lésion cérébrale true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) Injury of superficial nerves of head AND/OR neck false Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) lésion d'un nerf périphérique true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) Disorder of basal ganglia (disorder) true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) polyneuropathie true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis localisation d'une constatation (attribut) nerf périphérique (structure corporelle) true Inferred relationship Some 3
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) lésion cérébrale traumatique ou non traumatique (trouble) true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis morphologie associée (attribut) Necrosis true Inferred relationship Some 1
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) Chronic metabolic disorder true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis localisation d'une constatation (attribut) Corpus striatum structure true Inferred relationship Some 1
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) encéphalopathie métabolique true Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis évolution clinique (attribut) progressif true Inferred relationship Some 2
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) Necrosis of anatomical site true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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