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1177168007: autosomaal recessieve spastische paraparese type 78 (aandoening)


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
13241871000146115 SPG78 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305941000146116 autosomaal recessieve spastische paraparese type 78 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305951000146118 autosomaal recessieve spastische paraplegie type 78 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305961000146115 autosomaal recessieve spastische paraparese type 78 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 true Inferred relationship Some
Autosomal recessive spastic paraplegia type 78 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 78 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 78 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 78 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 78 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 78 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 78 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 78 (disorder) Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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