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778030005: paraplégie spastique autosomique récessive type 27 (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
3737335011 Autosomal recessive spastic paraplegia type 27 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737336012 Autosomal recessive spastic paraplegia type 27 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
785261000241115 paraplégie spastique autosomique récessive type 27 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
941251000172114 SPG27 - spastic paraplegia type 27 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
988981000172114 paraplégie spastique autosomique récessive type 27 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3737340015 A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. 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 27 est un(e) (attribut) paraplégie spastique héréditaire (trouble) false Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 27 survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 27 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 27 localisation d'une constatation (attribut) membre inférieur 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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