717826009: Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)

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

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)

\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 sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\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\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
\Disease\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\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

3323650013 This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3887491000052114 ärftlig sensorisk och autonom neuropati med dövhet och generellt försenad utveckling sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

This concept is not in any reference sets

Back to Start

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
3323650013	This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3887491000052114	ärftlig sensorisk och autonom neuropati med dövhet och generellt försenad utveckling	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)