128205005: hereditaire sensorische en autonome neuropathie (aandoening)

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
Hereditary dysautonomia with motor neuropathy	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	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
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type 7 (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type 8 (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Congenital insensitivity to pain with severe intellectual disability (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Congenital insensitivity to pain, anosmia, neuropathic arthropathy	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type 6 (disorder)	Is a	True	Hereditary sensory and autonomic neuropathy	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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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
12621000146118	hereditaire sensorische en autonome neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
950891000146118	hereditaire sensorische en autonome neuropathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13672661000146118	HSAN	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7730821000146112	Hereditaire sensorische en autonome neuropathieën (HSAN) zijn erfelijke (hereditaire) zenuwaandoeningen (neuropathieën) en hebben gevolgen voor het kunnen voelen (sensorisch) en de onwillekeurige organen (autonoom). Door deze zeldzame, aangeboren zenuwaandoening is men ongevoelig voor pijn.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)