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782746009: Autosomal recessive spastic paraplegia type 60 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755575013 Autosomal recessive spastic paraplegia type 60 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755576014 Autosomal recessive spastic paraplegia type 60 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755577017 Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. 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 60 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 60 survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 60 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 évolution clinique (attribut) progressif true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

US English

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