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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
3323651012 Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3323654016 Syndrome with the association of an axonal sensory and autonomic neuropathy and spastic paraplegia. So far, around nine families have been described in the literature, together with a few sporadic cases. Onset occurs between 1 and 5 years of age with spasticity and progressive severe loss of temperature and pain sensation associated with ulcero-mutilating acropathy. Linkage to chromosome 5q15.31-14.1 was identified in a consanguineous Moroccan family with an autosomal recessive mode of inheritance. Early reports suggested autosomal dominant inheritance but transmission in more recently described families appeared to be autosomal recessive. en Definition 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
3427791001000110 Mutilierende hereditäre sensorische Neuropathie mit spastischer Paraplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246071000241112 NHSA (neuropathie héréditaire sensitive et autonome) avec paraplégie spastique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246081000241114 HSAN (hereditary sensory and autonomic neuropathy) avec paraplégie spastique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246091000241111 neuropathie héréditaire sensitive et autonome avec paraplégie spastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246071000241112 NHSA (neuropathie héréditaire sensitive et autonome) avec paraplégie spastique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246081000241114 HSAN (hereditary sensory and autonomic neuropathy) avec paraplégie spastique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246091000241111 neuropathie héréditaire sensitive et autonome avec paraplégie spastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427791001000110 Mutilierende hereditäre sensorische Neuropathie mit spastischer Paraplegie 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
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Autonomic nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary sensory and autonomic neuropathy with spastic paraplegia Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with spastic paraplegia Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 9
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Hereditary sensory and autonomic neuropathy with spastic paraplegia Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 7
Hereditary sensory and autonomic neuropathy with spastic paraplegia Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 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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