29159009: Familial dysautonomia (disorder)

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\Familial dysautonomia

\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Familial dysautonomia

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Familial dysautonomia
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Familial dysautonomia
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hereditary sensory and autonomic neuropathy\Familial dysautonomia
\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\Familial dysautonomia
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Familial dysautonomia
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Familial dysautonomia
\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\Familial dysautonomia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

48792010 Familial dysautonomia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

48793017 Riley-Day syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

48794011 Dominant hereditary sensory neuropathy, type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

196713013 Hereditary sensory and autonomic neuropathy, type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

760021015 Familial dysautonomia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1226301016 Hereditary sensory and autonomic neuropathy type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1785096015 HSAN III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial dysautonomia	Is a	Hereditary sensory and autonomic neuropathy	true	Inferred relationship	Some
Familial dysautonomia	Finding site	Autonomic nerve structure	false	Inferred relationship	Some
Familial dysautonomia	Finding site	Autonomic nervous system structure	true	Inferred relationship	Some	2
Familial dysautonomia	Finding site	Nerve structure	true	Inferred relationship	Some	1
Familial dysautonomia	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of familial dysautonomia	Associated finding	True	Familial dysautonomia	Inferred relationship	Some	1

This concept is not in any reference sets