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764688002: paraplégie spastique autosomique récessive type 35 (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
3654873015 Autosomal recessive spastic paraplegia type 35 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654874014 Autosomal recessive spastic paraplegia type 35 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
767011000241117 paraplégie spastique autosomique récessive type 35 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
873231000172110 SPG35 - spastic paraplegia type 35 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
979401000172111 paraplégie spastique autosomique récessive type 35 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3654567011 A rare form of hereditary spastic paraplegia with characteristics of childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. 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 35 morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 35 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 est un(e) (attribut) paraplégie spastique héréditaire (trouble) false Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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