230557001: Hereditary dysautonomia with motor neuropathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Hereditary dysautonomia with motor neuropathy
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Hereditary dysautonomia with motor neuropathy
• \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 dysautonomia with motor neuropathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary dysautonomia with motor neuropathy
• \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 dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Autonomic neuropathy\Hereditary dysautonomia with motor neuropathy
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Hereditary dysautonomia with motor neuropathy

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
345467012	Hereditary dysautonomia with motor neuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
4555126013	Lisker Garcia Ramos syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4555127016	Peripheral motor neuropathy dysautonomia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
618383012	Hereditary dysautonomia with motor neuropathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555130011	Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
4555131010	Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterised by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and oesophageal achalasia. It has been described in two sisters. Inheritance 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

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