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732932004: paraplégie spastique autosomique récessive type 18 (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1018771000172117 paraplégie spastique autosomique récessive type 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3467555014 Autosomal recessive spastic paraplegia type 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467556010 Autosomal recessive spastic paraplegia type 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762681000241116 paraplégie spastique autosomique récessive type 18 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
979511000172110 SPG18 - spastic paraplegia type 18 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3467557018 A rare complex type of hereditary spastic paraplegia with characteristics of progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. This disease is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. 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 récessive type 18 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
paraplégie spastique autosomique récessive type 18 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
paraplégie spastique autosomique récessive type 18 évolution clinique (attribut) progressif true Inferred relationship Some 3
paraplégie spastique autosomique récessive type 18 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
paraplégie spastique autosomique récessive type 18 est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
paraplégie spastique autosomique récessive type 18 survenue (attribut) congénital false Inferred relationship Some
paraplégie spastique autosomique récessive type 18 localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
paraplégie spastique autosomique récessive type 18 morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
paraplégie spastique autosomique récessive type 18 localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3
paraplégie spastique autosomique récessive type 18 localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
paraplégie spastique autosomique récessive type 18 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
paraplégie spastique autosomique récessive type 18 survenue (attribut) congénital false Inferred relationship Some 1
paraplégie spastique autosomique récessive type 18 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
paraplégie spastique autosomique récessive type 18 survenue (attribut) congénital false Inferred relationship Some 2
paraplégie spastique autosomique récessive type 18 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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