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726610000: paraplégie spastique autosomique récessive type 63 (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
1000231000172112 SPG63 - spastic paraplegia type 63 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3450951012 Autosomal recessive spastic paraplegia type 63 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450952017 Autosomal recessive spastic paraplegia type 63 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762141000241117 paraplégie spastique autosomique récessive type 63 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
957441000172119 paraplégie spastique autosomique récessive type 63 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3450953010 An extremely rare and complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. 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 63 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 (disorder) est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 (disorder) survenue (attribut) congénital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 63 (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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