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733029008: Autosomal dominant spastic paraplegia type 29 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3498602018 Autosomal dominant spastic paraplegia type 29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403673011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403674017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498601013 Autosomal dominant spastic paraplegia type 29 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498602018 Autosomal dominant spastic paraplegia type 29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403673011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403674017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3386781001000112 Spastische Paraplegie, autosomal-dominante, Typ 29 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892761000172114 SPG29 - spastic paraplegia type 29 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955071000172110 paraplégie spastique autosomique dominante type 29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
892761000172114 SPG29 - spastic paraplegia type 29 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955071000172110 paraplégie spastique autosomique dominante type 29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386781001000112 Spastische Paraplegie, autosomal-dominante, Typ 29 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant spastic paraplegia type 29 Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Is a Complicated hereditary spastic paraplegia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 29 Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 29 Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 29 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 29 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 29 Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 29 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 29 Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 29 Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 29 Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 29 Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 29 Is a Decreased hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant spastic paraplegia type 29 Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 29 Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 29 Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 8
Autosomal dominant spastic paraplegia type 29 Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant spastic paraplegia type 29 Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal dominant spastic paraplegia type 29 Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 29 Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 29 Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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