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782725000: Autosomal recessive spastic paraplegia type 69 (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
3755500019 Autosomal recessive spastic paraplegia type 69 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755501015 Autosomal recessive spastic paraplegia type 69 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755502010 Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755500019 Autosomal recessive spastic paraplegia type 69 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755501015 Autosomal recessive spastic paraplegia type 69 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755502010 Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429171001000116 Spastische Paraplegie, autosomal-rezessive, Typ 69 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5758421000241114 paraplégie spastique autosomique récessive de type 69 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5758421000241114 paraplégie spastique autosomique récessive de type 69 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429171001000116 Spastische Paraplegie, autosomal-rezessive, Typ 69 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 69 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 69 Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 69 Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 69 Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 69 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 69 Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 69 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 69 Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 69 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 69 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 69 Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 69 Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 69 Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 69 Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 69 Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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