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733029008: Autosomal dominant spastic paraplegia type 29 (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498601013 Autosomal dominant spastic paraplegia type 29 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3498602018 Autosomal dominant spastic paraplegia type 29 en Synonym Active Case insensitive SNOMED CT core
3499934016 A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. en Definition Active Case sensitive SNOMED CT core
3499935015 A complex form of hereditary spastic paraplegia characterised by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraoesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. 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 29 Associated morphology Degenerative abnormality false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 29 Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Clinical course Progressive true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 29 Associated morphology Degenerative abnormality true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 29 Is a Decreased hearing true Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Is a Auditory system hereditary disorder true Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Is a Sensorineural hearing loss true Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Finding site Structure of auditory system true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 29 Interprets Hearing true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 29 Has interpretation Decreased true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 29 Interprets Movement true Inferred relationship Some 8
Autosomal dominant spastic paraplegia type 29 Finding site Structure of right lower limb true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 29 Finding site Structure of left lower limb true Inferred relationship Some 7
Autosomal dominant spastic paraplegia type 29 Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 29 Has interpretation Absent true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 29 Is a Autosomal dominant complex hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Occurrence Congenital false Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Finding site Structure of lower limb false Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 29 Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 29 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 29 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 29 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 29 Finding site Spinal cord structure false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 29 Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 29 Finding site Structure of lower limb false 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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