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782727008: Autosomal spastic paraplegia type 72 (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
3755506013 Autosomal spastic paraplegia type 72 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755507016 Autosomal spastic paraplegia type 72 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755508014 Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and in some mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. 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 spastic paraplegia type 72 survenue (attribut) congénital false Inferred relationship Some 1
Autosomal spastic paraplegia type 72 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal spastic paraplegia type 72 est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Autosomal spastic paraplegia type 72 est un(e) (attribut) Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal spastic paraplegia type 72 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal spastic paraplegia type 72 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Autosomal spastic paraplegia type 72 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal spastic paraplegia type 72 évolution clinique (attribut) progressif true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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