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717827000: Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323651012 Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323652017 Hereditary sensory and autonomic neuropathy with spastic paraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323653010 HSAN (hereditary sensory and autonomic neuropathy) with spastic paraplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401622014 A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401623016 A rare genetic neurological disorder characterised by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibres of all diameters as well as of unmyelinated axons. 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
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Occurrence Congenital false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Nerve structure true Inferred relationship Some 5
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 4
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Lower limb structure false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Autonomic nervous system structure true Inferred relationship Some 3
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Associated morphology Degeneration false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Spinal cord structure false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Cerebellar structure false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Occurrence Congenital false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Spinal cord structure false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Occurrence Congenital false Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Associated morphology Degenerative abnormality false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Lower limb structure false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Spinal cord structure true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Interprets Movement true Inferred relationship Some 9
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 8
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Interprets Movement observable true Inferred relationship Some 7
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Has interpretation Absent true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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