65017003: Hereditary peripheral neuropathy (disorder)

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

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

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

108062014 Hereditary peripheral neuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

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

946611000195114 neuropatia periferica ereditaria it Synonym (core metadata concept) Active Entire term case sensitive (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 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary peripheral neuropathy	Is a	Disorder of the peripheral nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary peripheral neuropathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary liability to pressure palsies (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary hypertrophic neuropathy with paraproteinaemia	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy	Is a	False	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial visceral neuropathy	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial amyloid polyneuropathy (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Heredofamilial brachial plexus paralysis syndrome	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary peripheral neuropathy NOS	Is a	False	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary autonomic neuropathy (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Friedreich ataxia (disorder)	Is a	True	Hereditary peripheral neuropathy	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets