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764736001: paraplégie spastique autosomique récessive type 43 (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
3655163012 Autosomal recessive spastic paraplegia type 43 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655164018 Autosomal recessive spastic paraplegia type 43 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
767141000241115 paraplégie spastique autosomique récessive type 43 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
877821000172118 SPG43 - spastic paraplegia type 43 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
945301000172119 paraplégie spastique autosomique récessive type 43 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3654715010 A rare complex hereditary spastic paraplegia with childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported. 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
Autosomal recessive spastic paraplegia type 43 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 (disorder) est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 43 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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