720506002: Deafness and myopia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\High myopia and sensorineural deafness
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\High myopia and sensorineural deafness
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\High myopia and sensorineural deafness
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\High myopia and sensorineural deafness
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\High myopia and sensorineural deafness
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\High myopia and sensorineural deafness
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\High myopia and sensorineural deafness
• \Ear and auditory finding\Ear finding\Disorder of ear\High myopia and sensorineural deafness
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\High myopia and sensorineural deafness
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\High myopia and sensorineural deafness
• \Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\High myopia and sensorineural deafness
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\High myopia and sensorineural deafness
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\High myopia and sensorineural deafness
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\High myopia and sensorineural deafness
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\High myopia and sensorineural deafness
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\High myopia and sensorineural deafness
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\High myopia and sensorineural deafness
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\High myopia and sensorineural deafness
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\High myopia and sensorineural deafness
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\High myopia and sensorineural deafness
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\High myopia and sensorineural deafness
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\High myopia and sensorineural deafness
• \Disease\Ear, nose and throat disorder\Disorder of ear\High myopia and sensorineural deafness
• \Disease\Disorder of head\Disorder of ear\High myopia and sensorineural deafness

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321066016	Deafness and myopia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321067013	Deafness and myopia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321068015	High myopia and sensorineural deafness	en	Synonym	Active	Case insensitive	SNOMED CT core
3321069011	Syndrome with characteristics of moderate to profound hearing loss in both ears and severe nearsightedness (high myopia). The hearing loss may be described as sensorineural or it may be caused by auditory neuropathy. The hearing loss is either present at birth or begins in infancy, before the child learns to speak. This syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. SLITRK6 gene mutations result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane meaning the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth.	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

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