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1177168007: Autosomal recessive spastic paraplegia type 78 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4643803010 Autosomal recessive spastic paraplegia type 78 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643804016 Autosomal recessive spastic paraplegia type 78 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643805015 SPG78 - autosomal recessive spastic paraplegia type 78 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399454011 A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399455012 A rare autosomal recessive complex spastic paraplegia characterised by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4643803010 Autosomal recessive spastic paraplegia type 78 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643804016 Autosomal recessive spastic paraplegia type 78 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643805015 SPG78 - autosomal recessive spastic paraplegia type 78 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4643806019 A rare autosomal recessive complex spastic paraplegia with characteristics of mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy and cerebellar symptoms like ataxia, dysarthria and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399454011 A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399455012 A rare autosomal recessive complex spastic paraplegia characterised by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3446041001000118 Spastische Paraplegie, autosomal-rezessive, Typ 78 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5797871000241116 paraplégie spastique autosomique récessive de type 78 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5797871000241116 paraplégie spastique autosomique récessive de type 78 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3446041001000118 Spastische Paraplegie, autosomal-rezessive, Typ 78 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 recessive spastic paraplegia type 78 (disorder) Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 78 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 78 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 78 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 78 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 78 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 78 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 78 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 78 (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 78 (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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