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763068005: paraplégie spastique autosomique dominante type 31 (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1010621000172113 paraplégie spastique autosomique dominante type 31 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3637764017 Autosomal dominant spastic paraplegia type 31 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3637765016 Autosomal dominant spastic paraplegia type 31 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
765501000241118 paraplégie spastique autosomique dominante type 31 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
942931000172115 SPG31 - spastic paraplegia type 31 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3637766015 A type of hereditary spastic paraplegia with usual characteristics of pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (more than 30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. 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
paraplégie spastique autosomique dominante type 31 morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 2
paraplégie spastique autosomique dominante type 31 évolution clinique (attribut) progressif true Inferred relationship Some 3
paraplégie spastique autosomique dominante type 31 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
paraplégie spastique autosomique dominante type 31 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
paraplégie spastique autosomique dominante type 31 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
paraplégie spastique autosomique dominante type 31 est un(e) (attribut) Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
paraplégie spastique autosomique dominante type 31 survenue (attribut) congénital false Inferred relationship Some 2
paraplégie spastique autosomique dominante type 31 morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
paraplégie spastique autosomique dominante type 31 localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 2
paraplégie spastique autosomique dominante type 31 survenue (attribut) congénital false Inferred relationship Some 1
paraplégie spastique autosomique dominante type 31 localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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