717826009: Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay
• \Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323647010	Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323648017	Hereditary sensory and autonomic neuropathy with deafness and global delay	en	Synonym	Active	Case insensitive	SNOMED CT core
3323649013	HSAN (hereditary sensory and autonomic neuropathy) with deafness and global delay	en	Synonym	Active	Case sensitive	SNOMED CT core
3323650013	This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears to be autosomal recessive.	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

Strength reference set

Description inactivation indicator reference set

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