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723497003: Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424833019 Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424834013 Peripheral neuropathy with sensorineural hearing impairment syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424835014 Neuropathy with hearing impairment en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403085019 This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403086018 This syndrome is characterised by the association of sensorineural hearing impairment and peripheral neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424833019 Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424834013 Peripheral neuropathy with sensorineural hearing impairment syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424835014 Neuropathy with hearing impairment en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424836010 Syndrome with the association of sensorineural hearing impairment and peripheral neuropathy. It has been described in members from four generations of a Spanish family. The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation. Caused by mutations in the GJB3 gene (1p34). The syndrome is transmitted in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403085019 This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403086018 This syndrome is characterised by the association of sensorineural hearing impairment and peripheral neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435891001000110 Neuropathie mit Schwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445781000241118 syndrome de neuropathie périphérique avec trouble de l'audition neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445791000241116 syndrome de neuropathie périphérique avec surdité neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445781000241118 syndrome de neuropathie périphérique avec trouble de l'audition neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6445791000241116 syndrome de neuropathie périphérique avec surdité neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435891001000110 Neuropathie mit Schwerhörigkeit 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
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a Peripheral demyelinating neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a Hereditary peripheral neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Associated morphology Demyelination true Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Finding site Peripheral nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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