128205005: Hereditary sensory and autonomic neuropathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\...

\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy

\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hereditary sensory and autonomic neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary sensory and autonomic neuropathy	Is a	Neuropathy	false	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy	Is a	Disorder of autonomic nervous system	false	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy	Is a	Hereditary peripheral neuropathy	true	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy	Finding site	Autonomic nerve structure	false	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy	Is a	Neuropathy (disorder)	true	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy	Finding site	Nerve structure	true	Inferred relationship	Some	1
Hereditary sensory and autonomic neuropathy	Finding site	Autonomic nervous system structure	true	Inferred relationship	Some	3
Hereditary sensory and autonomic neuropathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Hereditary sensory and autonomic neuropathy	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant sensory neuropathy	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy, type II	Is a	False	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
X-linked recessive sensory neuropathy	Is a	False	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
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.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Congenital sensory neuropathy with selective loss of small myelinated fibres	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Familial dysautonomia	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary insensitivity to pain with anhidrosis (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type I (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type II (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare, genetic, periphery neuropathy characterized by a 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.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy.	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
206445019	Hereditary sensory and autonomic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732170017	Hereditary sensory and autonomic neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244052016	HSAN - hereditary sensory and autonomic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
991131000172118	HSAN - hereditary sensory and autonomic neuropathy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1016961000172111	neuropathie héréditaire sensitive et autonomique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3415571001000119	Hereditäre sensorische und autonome Neuropathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module