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782752005: Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755614011 Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755615012 Peripheral neuropathy, myopathy, hoarseness, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755616013 Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755617016 A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755614011 Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755615012 Peripheral neuropathy, myopathy, hoarseness, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755616013 Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755617016 A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3397561001000114 Periphere Neuropathie-Myopathie-Heiserkeit-Hörverlust-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6456451000241114 syndrome de neuropathie périphérique, myopathie, raucité de la voix et perte auditive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6456451000241114 syndrome de neuropathie périphérique, myopathie, raucité de la voix et perte auditive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3397561001000114 Periphere Neuropathie-Myopathie-Heiserkeit-Hörverlust-Syndrom 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, myopathy, hoarseness, hearing loss syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Chronic disease of ear (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Chronic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Chronic disease of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Myoneural disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Peripheral nerve disease false Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 5
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Finding site Ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Finding site Peripheral nerve structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Autosomal dominant distal hereditary motor neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a Chronic deafness true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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