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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\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

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

3916241000052111 ärftlig sensorisk och autonom neuropati med spastisk paraplegi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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 (morphologic 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	true	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 (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
3916241000052111	ärftlig sensorisk och autonom neuropati med spastisk paraplegi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)