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\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Gemignani syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\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\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\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\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Gemignani syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Gemignani syndrome
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Gemignani syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Gemignani syndrome
\Disease\Disorder of body system\Neurological disorder\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\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gemignani syndrome
\Disease\Disorder of head\Encephalopathy\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, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755229018 Spinocerebellar ataxia, amyotrophy, deafness syndrome en Synonym Active Case insensitive SNOMED CT core

3755230011 Gemignani syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3755231010 Gemignani syndrome en Synonym Active Case sensitive SNOMED CT core

3755232015 A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. en Definition Active Case sensitive SNOMED CT core

3755233013 A rare neurodegenerative disease characterised by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalised cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localised vitiligo have also been reported. There have been no further descriptions in the literature since 1989. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3755229018	Spinocerebellar ataxia, amyotrophy, deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3755230011	Gemignani syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3755231010	Gemignani syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3755232015	A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Case sensitive	SNOMED CT core
3755233013	A rare neurodegenerative disease characterised by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalised cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localised vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Case sensitive	SNOMED CT core