65017003: Hereditary peripheral neuropathy (disorder)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

108062014 Hereditary peripheral neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

804474017 Hereditary peripheral neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

946611000195114 neuropatia periferica ereditaria it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

304201000077118 neuropathie périphérique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary peripheral neuropathy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hereditary peripheral neuropathy	Is a	Disorder of the peripheral nervous system	true	Inferred relationship	Some
Hereditary peripheral neuropathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary liability to pressure palsies	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Hereditary hypertrophic neuropathy with paraproteinemia	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Hereditary motor and sensory neuropathy	Is a	False	Hereditary peripheral neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Familial visceral neuropathy	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Familial amyloid polyneuropathy	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Heredofamilial brachial plexus paralysis syndrome	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Hereditary peripheral neuropathy NOS	Is a	False	Hereditary peripheral neuropathy	Inferred relationship	Some
Hereditary motor and sensory neuropathy (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Hereditary autonomic neuropathy (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some
Friedreich ataxia	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Some

This concept is not in any reference sets