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782670003: Autosomal dominant spastic paraplegia type 3 (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
3755087011 Autosomal dominant spastic paraplegia type 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755088018 Autosomal dominant spastic paraplegia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755089014 Strumpell disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 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 3 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 (disorder) Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 3 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 3 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 3 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 3 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 3 (disorder) Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 (disorder) Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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