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723825006: paraplégie spastique autosomique récessive type 55 (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3428260010 Autosomal recessive spastic paraplegia type 55 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3428261014 Autosomal recessive spastic paraplegia type 55 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759981000241111 paraplégie spastique autosomique récessive type 55 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
895271000172119 paraplégie spastique autosomique récessive type 55 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
918081000172112 SPG55 - spastic paraplegia type 55 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3428262019 A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial. 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 55 (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 55 (disorder) morphologie associée (attribut) Primary atrophy false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) Optic nerve structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (disorder) est un(e) (attribut) SPOAN and SPOAN-related disorder true Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) Optic nerve structure true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 (disorder) morphologie associée (attribut) Primary atrophy true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 (disorder) survenue (attribut) congénital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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