782690007: Gemignani syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Gemignani syndrome

\Cerebellar ataxia\Gemignani syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome\Gemignani syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Gemignani syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome

\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Chronic brain syndrome\Gemignani syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Chronic brain syndrome\Gemignani syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Gemignani syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Gemignani syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Gemignani syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Gemignani syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Gemignani syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Gemignani syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Gemignani syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Gemignani syndrome

\Chronic deafness\Gemignani syndrome

\Sensorineural hearing loss\Gemignani syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Gemignani syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Gemignani syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Gemignani syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Gemignani syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Gemignani syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Gemignani syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Gemignani syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Gemignani syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Gemignani syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Gemignani syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic brain syndrome\Gemignani syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Gemignani syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Disease\Disorder of head\Disorder of brain\Chronic brain syndrome\Gemignani syndrome
\Disease\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Disease\Chronic disease\Chronic disease of ear\Chronic deafness\Gemignani syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Gemignani syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3755229018 Spinocerebellar ataxia, amyotrophy, deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3755230011 Gemignani syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3755231010 Gemignani syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gemignani syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Is a	Chronic disease of ear	false	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	1
Gemignani syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Is a	Chronic brain syndrome	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	1
Gemignani syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	4
Gemignani syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	3
Gemignani syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	5
Gemignani syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Gemignani syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Gemignani syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Gemignani syndrome	Is a	Chronic deafness	true	Inferred relationship	Existential restriction modifier

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
3755229018	Spinocerebellar ataxia, amyotrophy, deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3755230011	Gemignani syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3755231010	Gemignani syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module