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723819007: paraplégie spastique autosomique dominante type 36 (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
3426254018 Autosomal dominant spastic paraplegia type 36 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426255017 Autosomal dominant spastic paraplegia type 36 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759921000241110 paraplégie spastique autosomique dominante type 36 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
926441000172116 SPG36 - spastic paraplegia type 36 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
937481000172111 paraplégie spastique autosomique dominante type 36 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3426256016 A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24. 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 36 (disorder) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) est un(e) (attribut) Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) survenue (attribut) congénital false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 (disorder) 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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