782690007: Gemignani syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Gemignani syndrome (disorder)
• \Cerebellar ataxia\Gemignani syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gemignani syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Gemignani syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gemignani syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Gemignani syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Gemignani syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gemignani syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Gemignani syndrome (disorder)
• \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\Gemignani syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gemignani syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Gemignani syndrome (disorder)
• \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\Gemignani syndrome (disorder)
• \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\Gemignani syndrome (disorder)
• \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\Gemignani syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Gemignani syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Gemignani syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Gemignani syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\maladie chronique de l'oreille\Gemignani syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\maladie chronique de l'oreille\Gemignani syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Gemignani syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Gemignani syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\...
• \Hearing loss associated with syndrome\Gemignani syndrome (disorder)
• \Sensorineural hearing loss\Gemignani syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Gemignani syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Gemignani syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Gemignani syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\maladie chronique de l'oreille\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Gemignani syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Gemignani syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\maladie chronique de l'oreille\Gemignani syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gemignani syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Gemignani syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\maladie chronique de l'oreille\Gemignani syndrome (disorder)
• \Disease\maladie chronique\maladie chronique de l'oreille\Gemignani syndrome (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Gemignani 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
3755229018	Spinocerebellar ataxia, amyotrophy, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755230011	Gemignani syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755231010	Gemignani syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755232015	A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755233013	A rare neurodegenerative disease characterised by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalised cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localised vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	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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