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726606003: paraplégie spastique autosomique récessive type 32 (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
3450922013 Autosomal recessive spastic paraplegia type 32 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450923015 Autosomal recessive spastic paraplegia type 32 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762101000241115 paraplégie spastique autosomique récessive type 32 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
900371000172112 SPG32 - spastic paraplegia type 32 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
943071000172111 paraplégie spastique autosomique récessive type 32 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3450924014 A rare complex type of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. 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 32 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 (disorder) est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 (disorder) survenue (attribut) congénital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 32 (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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