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783094006: Autosomal recessive spastic paraplegia type 14 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757559011 Autosomal recessive spastic paraplegia type 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757560018 Autosomal recessive spastic paraplegia type 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757561019 A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. 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 14 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 14 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 14 est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 évolution clinique (attribut) progressif true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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