783550006: Hereditary sensory and autonomic neuropathy type 7 (disorder)

• SNOMED CT Concept\Clinical finding\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 type 7
• \Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type 7
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary sensory and autonomic neuropathy type 7
• \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 type 7
• \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 type 7
• \Disorder of body system\Neurological disorder\Neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type 7
• \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 type 7
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type 7
• \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 type 7
• \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 type 7

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759300013	Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction	en	Synonym	Active	Case insensitive	SNOMED CT core
3759301012	Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction	en	Synonym	Active	Case insensitive	SNOMED CT core
3759302017	Hereditary sensory and autonomic neuropathy type 7 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3759303010	Hereditary sensory and autonomic neuropathy type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3759304016	Hereditary sensory and autonomic neuropathy type VII	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759305015	HSAN7- hereditary sensory and autonomic neuropathy type 7	en	Synonym	Active	Case sensitive	SNOMED CT core
3759306019	A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhoea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22.	en	Definition	Active	Case sensitive	SNOMED CT core
3759307011	A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22.	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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