FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

783698005: Autosomal dominant spastic paraplegia type 13 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3759763014 Autosomal dominant spastic paraplegia type 13 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3759764015 Autosomal dominant spastic paraplegia type 13 en Synonym Active Case insensitive SNOMED CT core
3759492012 A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. 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 13 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 13 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 13 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 13 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 13 Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 13 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 13 Clinical course Progressive true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 13 Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 13 Finding site Structure of right lower limb true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 13 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 13 Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 13 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

Back to Start