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723819007: Autosomal dominant spastic paraplegia type 36 (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3426254018 Autosomal dominant spastic paraplegia type 36 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3426255017 Autosomal dominant spastic paraplegia type 36 en Synonym Active Case insensitive SNOMED CT core
3426256016 A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant spastic paraplegia type 36 Associated morphology Degenerative abnormality false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Clinical course Progressive true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 Associated morphology Degenerative abnormality true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 36 Finding site Structure of right lower limb true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 36 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 36 Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 Has interpretation Absent true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 Is a Autosomal dominant complex hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Occurrence Congenital false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Finding site Structure of lower limb false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 Finding site Spinal cord structure false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 Finding site Structure of lower limb false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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