FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

764736001: Autosomal recessive spastic paraplegia type 43 (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655163012 Autosomal recessive spastic paraplegia type 43 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3655164018 Autosomal recessive spastic paraplegia type 43 en Synonym Active Case insensitive SNOMED CT core
3654715010 A rare complex hereditary spastic paraplegia with childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 43 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 43 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 43 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 43 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 43 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 43 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 Finding site Spinal cord structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start