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717826009: Hereditary sensory and autonomic neuropathy with deafness and global delay (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
3323647010 Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323648017 Hereditary sensory and autonomic neuropathy with deafness and global delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323649013 HSAN (hereditary sensory and autonomic neuropathy) with deafness and global delay en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401620018 This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401621019 This syndrome is characterised by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. 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 with deafness and global delay (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Finding site Nerve structure true Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Finding site Autonomic nervous system structure true Inferred relationship Some 3
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Interprets Hearing true Inferred relationship Some 4
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Finding site Structure of auditory system (body structure) 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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