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764686003: paraplégie spastique autosomique récessive type 15 (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
3654867016 Spastic paraplegia, retinal degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654869018 Kjellin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3654870017 Autosomal recessive spastic paraplegia type 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654871018 Hereditary spastic paraparesis type 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654872013 Autosomal recessive spastic paraplegia type 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
767001000241119 paraplégie spastique autosomique récessive type 15 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
950111000172111 paraplégie spastique autosomique récessive type 15 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
964021000172116 SPG15 - spastic paraplegia type 15 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3654868014 A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. 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 15 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 évolution clinique (attribut) progressif true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 15 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 15 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 15 survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 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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