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770724001: paraplégie spastique autosomique récessive type 70 (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
1015491000172117 paraplégie spastique autosomique récessive type 70 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3702254017 Autosomal recessive spastic paraplegia type 70 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702255016 Autosomal recessive spastic paraplegia type 70 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
769771000241115 paraplégie spastique autosomique récessive type 70 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
893571000172115 SPG70 - spastic paraplegia type 70 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3702256015 A very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (crawling, walking) and has characteristics of lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, and scoliosis and cerebellar abnormalities. 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 70 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
paraplégie spastique autosomique récessive type 70 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
paraplégie spastique autosomique récessive type 70 évolution clinique (attribut) progressif true Inferred relationship Some 3
paraplégie spastique autosomique récessive type 70 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
paraplégie spastique autosomique récessive type 70 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
paraplégie spastique autosomique récessive type 70 est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
paraplégie spastique autosomique récessive type 70 survenue (attribut) congénital false Inferred relationship Some 1
paraplégie spastique autosomique récessive type 70 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
paraplégie spastique autosomique récessive type 70 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
paraplégie spastique autosomique récessive type 70 survenue (attribut) congénital false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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