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1187468005: Autosomal dominant spastic paraplegia type 73 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4673893013 Autosomal dominant spastic paraplegia type 73 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4673894019 Autosomal dominant spastic paraplegia type 73 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399626013 A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399627016 A pure form of hereditary spastic paraplegia characterised by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4673893013 Autosomal dominant spastic paraplegia type 73 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4673894019 Autosomal dominant spastic paraplegia type 73 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4673895018 A pure form of hereditary spastic paraplegia with characteristics of adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399626013 A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399627016 A pure form of hereditary spastic paraplegia characterised by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385911001000112 Spastische Paraplegie, autosomal-dominante, Typ 73 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5760221000241118 paraplégie spastique autosomique dominante de type 73 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5760221000241118 paraplégie spastique autosomique dominante de type 73 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385911001000112 Spastische Paraplegie, autosomal-dominante, Typ 73 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 73 Is a Pure hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 73 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 73 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 73 Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 73 Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 73 Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 73 Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant spastic paraplegia type 73 Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 73 Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant spastic paraplegia type 73 Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 73 Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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