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783698005: Autosomal dominant spastic paraplegia type 13 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3759763014 Autosomal dominant spastic paraplegia type 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759764015 Autosomal dominant spastic paraplegia type 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759492012 A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759763014 Autosomal dominant spastic paraplegia type 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759764015 Autosomal dominant spastic paraplegia type 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759492012 A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432031001000110 Spastische Paraplegie, autosomal-dominante, Typ 13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5767111000241115 paraplégie spastique autosomique dominante de type 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5767111000241115 paraplégie spastique autosomique dominante de type 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432031001000110 Spastische Paraplegie, autosomal-dominante, Typ 13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant spastic paraplegia type 13 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 13 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 13 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 13 (disorder) Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 13 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 13 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 13 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 13 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant spastic paraplegia type 13 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 13 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant spastic paraplegia type 13 (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 13 (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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