721092005: Developmental malformation, deafness, dystonia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia 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)\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Vestibular system finding (finding)\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia 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\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia 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)\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia 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\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia 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\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia 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\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia 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\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia 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\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\...
• \Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\dystonie\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Developmental malformation, deafness, dystonia syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323461013	Developmental malformation, deafness, dystonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323462018	Developmental malformation, deafness, dystonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323463011	This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323464017	This syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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