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766767001: Autosomal recessive spastic paraplegia type 67 (disorder)


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
3662554012 Autosomal recessive spastic paraplegia type 67 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662555013 Autosomal recessive spastic paraplegia type 67 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404659011 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404660018 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterised by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662554012 Autosomal recessive spastic paraplegia type 67 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662555013 Autosomal recessive spastic paraplegia type 67 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662556014 An extremely rare complex hereditary spastic paraplegia with characteristics of infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404659011 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404660018 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterised by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385291001000114 Spastische Paraplegie, autosomal-rezessive, Typ 67 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
969051000172114 SPG67 - spastic paraplegia type 67 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011031000172113 paraplégie spastique autosomique récessive type 67 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
969051000172114 SPG67 - spastic paraplegia type 67 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011031000172113 paraplégie spastique autosomique récessive type 67 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385291001000114 Spastische Paraplegie, autosomal-rezessive, Typ 67 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 67 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 67 (disorder) Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 67 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 67 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 67 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 67 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 67 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 67 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 67 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 67 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 67 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 67 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 67 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 67 (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 67 (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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