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1172838005: Hereditary sensory and autonomic neuropathy type 8 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4636149010 Hereditary sensory and autonomic neuropathy type 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636150010 HSAN8 - hereditary sensory and autonomic neuropathy type 8 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636151014 Hereditary sensory and autonomic neuropathy type 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636152019 Hereditary sensory and autonomic neuropathy type VIII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5399412013 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399413015 A rare autosomal recessive hereditary sensory and autonomic neuropathy characterised 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-fibre sensory modalities such as light touch, vibration, and proprioception are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary sensory and autonomic neuropathy type 8 (disorder) Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 8 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 8 (disorder) Finding site Nerve structure true Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy type 8 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy type 8 (disorder) Finding site Autonomic nervous system structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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