770751003: Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Ear finding\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Disorder of head\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3702450011	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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