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766767001: paraplégie spastique autosomique récessive type 67 (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
1011031000172113 paraplégie spastique autosomique récessive type 67 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3662554012 Autosomal recessive spastic paraplegia type 67 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662555013 Autosomal recessive spastic paraplegia type 67 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
768401000241114 paraplégie spastique autosomique récessive type 67 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
969051000172114 SPG67 - spastic paraplegia type 67 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3662556014 An extremely rare complex hereditary spastic paraplegia with characteristics of infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting 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 67 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
paraplégie spastique autosomique récessive type 67 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
paraplégie spastique autosomique récessive type 67 évolution clinique (attribut) progressif true Inferred relationship Some 3
paraplégie spastique autosomique récessive type 67 survenue (attribut) congénital false Inferred relationship Some 2
paraplégie spastique autosomique récessive type 67 est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
paraplégie spastique autosomique récessive type 67 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
paraplégie spastique autosomique récessive type 67 survenue (attribut) congénital false Inferred relationship Some 1
paraplégie spastique autosomique récessive type 67 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
paraplégie spastique autosomique récessive type 67 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
paraplégie spastique autosomique récessive type 67 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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