782822006: Infantile cerebellar and retinal degeneration (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile cerebellar and retinal degeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\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\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\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\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile cerebellar and retinal degeneration
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Infantile cerebellar and retinal degeneration
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756074010 Infantile cerebellar and retinal degeneration (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3756075011 Infantile cerebellar and retinal degeneration en Synonym Active Case insensitive SNOMED CT core

3756076012 A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile cerebellar and retinal degeneration	Is a	Degeneration of retina	true	Inferred relationship	Some
Infantile cerebellar and retinal degeneration	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile cerebellar and retinal degeneration	Occurrence	Infancy	true	Inferred relationship	Some	1
Infantile cerebellar and retinal degeneration	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Infantile cerebellar and retinal degeneration	Is a	Inherited optic neuropathy	false	Inferred relationship	Some
Infantile cerebellar and retinal degeneration	Occurrence	Infancy	true	Inferred relationship	Some	2
Infantile cerebellar and retinal degeneration	Occurrence	Infancy	true	Inferred relationship	Some	3
Infantile cerebellar and retinal degeneration	Associated morphology	Primary atrophy	true	Inferred relationship	Some	3
Infantile cerebellar and retinal degeneration	Finding site	Retinal structure	true	Inferred relationship	Some	2
Infantile cerebellar and retinal degeneration	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Some
Infantile cerebellar and retinal degeneration	Finding site	Optic nerve structure	true	Inferred relationship	Some	3
Infantile cerebellar and retinal degeneration	Is a	Hereditary optic atrophy	true	Inferred relationship	Some
Infantile cerebellar and retinal degeneration	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Infantile cerebellar and retinal degeneration	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Infantile cerebellar and retinal degeneration	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Infantile cerebellar and retinal degeneration	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2

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
3756074010	Infantile cerebellar and retinal degeneration (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756075011	Infantile cerebellar and retinal degeneration	en	Synonym	Active	Case insensitive	SNOMED CT core
3756076012	A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13.	en	Definition	Active	Case sensitive	SNOMED CT core