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763374004: paraplégie spastique autosomique dominante type 12 (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
3640260011 Autosomal dominant spastic paraplegia type 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640261010 Autosomal dominant spastic paraplegia type 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
765991000241116 paraplégie spastique autosomique dominante type 12 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
891231000172115 paraplégie spastique autosomique dominante type 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
897231000172110 SPG12 - spastic paraplegia type 12 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3640262015 A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. The disease is caused by heterozygous mutation in the RTN2 gene on chromosome 19q13. 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 dominant spastic paraplegia type 12 (disorder) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 12 (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 (disorder) est un(e) (attribut) Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 12 (disorder) est un(e) (attribut) Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 12 (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 (disorder) 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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