FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

785305006: Autosomal dominant spastic paraplegia type 8 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3766856017 Autosomal dominant spastic paraplegia type 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766857014 Autosomal dominant spastic paraplegia type 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766858016 A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3766856017 Autosomal dominant spastic paraplegia type 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766857014 Autosomal dominant spastic paraplegia type 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766858016 A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3441271001000114 Spastische Paraplegie, autosomal-dominante, Typ 8 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5788041000241117 paraplégie spastique autosomique dominante de type 8 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5788041000241117 paraplégie spastique autosomique dominante de type 8 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441271001000114 Spastische Paraplegie, autosomal-dominante, Typ 8 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 8 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 8 Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 8 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 8 Is a Chronic paraplegia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 8 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 8 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 8 Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 8 Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 8 Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant spastic paraplegia type 8 Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 8 Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant spastic paraplegia type 8 Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 8 Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start