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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3323652017 Hereditary sensory and autonomic neuropathy with spastic paraplegia en Synonym Active Case insensitive SNOMED CT core
3323653010 HSAN (hereditary sensory and autonomic neuropathy) with spastic paraplegia en Synonym Active Case sensitive 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 Case sensitive 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 Associated morphology Degenerative abnormality false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia Clinical course Progressive true Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Structure of lower limb false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Spinal cord structure true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Associated morphology Degenerative abnormality true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Interprets Movement true Inferred relationship Some 9
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Structure of right lower limb true Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Structure of left lower limb true Inferred relationship Some 8
Hereditary sensory and autonomic neuropathy with spastic paraplegia Interprets Movement observable true Inferred relationship Some 7
Hereditary sensory and autonomic neuropathy with spastic paraplegia Has interpretation Absent true Inferred relationship Some 7
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence Congenital false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Nerve structure true Inferred relationship Some 5
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Peripheral nervous system structure true Inferred relationship Some 4
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Structure of lower limb false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Autonomic nervous system structure true Inferred relationship Some 3
Hereditary sensory and autonomic neuropathy with spastic paraplegia Associated morphology Degeneration false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Spinal cord structure false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Cerebellar structure false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia Associated morphology Degeneration false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence Congenital false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Spinal cord structure false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence Congenital false Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Finding site Structure of lower limb false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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