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719838008: X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318112017 X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318113010 X-linked hereditary sensory and autonomic neuropathy with deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318114016 X-linked auditory neuropathy with peripheral sensory neuropathy type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318115015 X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402253015 A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402254014 A rare peripheral neuropathy characterised by the association of an axonal sensory and autonomic neuropathy with hearing loss. 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
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Finding site Nerve structure true Inferred relationship Some 2
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 3
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Finding site Autonomic nervous system structure true Inferred relationship Some 4
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Finding site Ear structure false Inferred relationship Some 1
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 1
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Interprets Hearing true Inferred relationship Some 5
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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