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723819007: autosomaal dominante spastische paraplegie type 36 (aandoening)


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
3426254018 Autosomal dominant spastic paraplegia type 36 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426255017 Autosomal dominant spastic paraplegia type 36 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6148171000146114 autosomaal dominante spastische paraplegie type 36 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148181000146111 autosomaal dominante spastische paraplegie type 36 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6699871000146119 SPG36 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 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 dominant spastic paraplegia type 36 (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) Finding site Lower limb structure false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) Finding site Spinal cord structure false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 (disorder) Associated morphology Degenerative abnormality false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 36 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 36 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 36 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 36 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 36 (disorder) Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 (disorder) Has interpretation Absent true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 (disorder) Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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