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723824005: Autosomal recessive spastic paraplegia type 54 (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
3426274013 Autosomal recessive spastic paraplegia type 54 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426275014 Autosomal recessive spastic paraplegia type 54 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426276010 A rare complex form of hereditary spastic paraplegia with the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. Caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3981281000052114 autosomalt recessiv spastisk paraplegi, typ 54 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 54 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 (disorder) Finding site Lower limb structure false Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 (disorder) Associated morphology degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 54 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 54 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 54 (disorder) Associated morphology degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 54 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 54 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 54 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 54 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 54 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 54 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 54 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 54 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 54 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 54 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 54 (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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