763688008: Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \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)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\complication liée au système nerveux central\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy 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\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Deafness, encephaloneuropathy, obesity, valvulopathy 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\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy 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\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy 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\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \perte auditive (trouble)\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\...
• \affection des muscles et des nerfs périphériques combinée (trouble)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Disorder of nerve due to metabolic disease (disorder)\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy 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)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\complication liée au système nerveux central\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Deafness, encephaloneuropathy, obesity, valvulopathy 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)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\affection de la tête\affection de l'oreille\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\trouble métabolique\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Peripheral neuropathy due to metabolic disorder (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643289014	Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643290017	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643291018	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643294014	A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	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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