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782670003: Autosomal dominant spastic paraplegia type 3 (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755087011 Autosomal dominant spastic paraplegia type 3 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3755088018 Autosomal dominant spastic paraplegia type 3 en Synonym Active Case insensitive SNOMED CT core
3755089014 Strumpell disease en Synonym Active Case sensitive SNOMED CT core
3755090017 A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant spastic paraplegia type 3 Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 3 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 Clinical course Progressive true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 3 Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 3 Finding site Structure of right lower limb true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 3 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 3 Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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