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

763374004: Autosomal dominant spastic paraplegia type 12 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3640260011 Autosomal dominant spastic paraplegia type 12 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3640261010 Autosomal dominant spastic paraplegia type 12 en Synonym Active Case insensitive SNOMED CT core
3640262015 A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. The disease is caused by heterozygous mutation in the RTN2 gene on chromosome 19q13. 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 12 Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 Clinical course Progressive true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 12 Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 12 Finding site Structure of right lower limb true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 12 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 12 Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 Has interpretation Absent true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 Is a Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 12 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 12 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 Associated morphology Degeneration false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 12 Finding site Structure of lower limb false 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