770751003: syndrome de déficiences motrice et intellectuelle sévères-surdité neurosensorielle-dystonie (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\dystonie\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural 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 face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural 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\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural 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\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \perte auditive (trouble)\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural 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\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\dystonie\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702449011	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702450011	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769821000241110	syndrome de déficiences motrice et intellectuelle sévères-surdité neurosensorielle-dystonie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
963501000172115	syndrome de déficiences motrice et intellectuelle sévères-surdité neurosensorielle-dystonie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3702451010	A rare genetic neurological with characteristics of intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Caused by hemizygous mutation in the BCAP31 gene on chromosome Xq28.	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)

Description inactivation indicator reference set

GB English

US English

Back to Start