720634003: Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Disorder of head\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321601013 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321608019 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome en Synonym Active Case insensitive SNOMED CT core

3321609010 CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome en Synonym Active Case sensitive SNOMED CT core

3321610017 A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Early onset cerebellar ataxia	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Some	3
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	4
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Finding site	Ear structure	true	Inferred relationship	Some	2
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	Hereditary ataxia	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
3321601013	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321608019	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321609010	CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321610017	A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements.	en	Definition	Active	Case sensitive	SNOMED CT core