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

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\...
• \Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \maladie chronique de l'appareil locomoteur\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\Ear, nose and throat disorder\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\affection de la tête\affection de l'oreille\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\maladie chronique\maladie chronique de l'oreille\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

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

Expanded Value Set

This concept is not in any reference sets

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