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723823004: Autosomal recessive spastic paraplegia type 53 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3426271017 Autosomal recessive spastic paraplegia type 53 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426272012 Autosomal recessive spastic paraplegia type 53 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426273019 A very rare complex type of hereditary spastic paraplegia with characteristics of early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. Caused by mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. 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 53 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Lower limb structure false Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 53 (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 53 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 53 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 53 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 53 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 53 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 53 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 53 (disorder) Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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