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763377006: Autosomal spastic paraplegia type 30 (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
3640269012 Autosomal spastic paraplegia type 30 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640271012 Autosomal spastic paraplegia type 30 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640270013 A form of hereditary spastic paraplegia presenting with either a pure spastic paraplegia phenotype, usually in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. 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 spastic paraplegia type 30 (disorder) Is a Autosomal hereditary disorder true Inferred relationship Some
Autosomal spastic paraplegia type 30 (disorder) Is a Hereditary spastic paraplegia true Inferred relationship Some
Autosomal spastic paraplegia type 30 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal spastic paraplegia type 30 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Autosomal spastic paraplegia type 30 (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal spastic paraplegia type 30 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal spastic paraplegia type 30 (disorder) Finding site Lower limb structure false Inferred relationship Some 1
Autosomal spastic paraplegia type 30 (disorder) Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal spastic paraplegia type 30 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Autosomal spastic paraplegia type 30 (disorder) Finding site Lower limb structure false Inferred relationship Some 3
Autosomal spastic paraplegia type 30 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal spastic paraplegia type 30 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal spastic paraplegia type 30 (disorder) Interprets Movement true Inferred relationship Some 4
Autosomal spastic paraplegia type 30 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 5
Autosomal spastic paraplegia type 30 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 6
Autosomal spastic paraplegia type 30 (disorder) Interprets Movement observable true Inferred relationship Some 3
Autosomal spastic paraplegia type 30 (disorder) Has interpretation Absent true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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