770898002: Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Third cranial nerve finding\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Third cranial nerve finding\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Finding of head and neck region\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of oculomotor system (disorder)\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Eye / vision finding\Third cranial nerve finding\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Neurological finding\Cranial nerve finding\Third cranial nerve finding\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of oculomotor system (disorder)\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703327013	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703328015	Autosomal recessive spinocerebellar ataxia type 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703329011	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703330018	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703331019	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703332014	A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703333016	A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterised by early-childhood onset of cerebellar ataxia associated with generalised tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10063881000172110	ataxie spinocérébelleuse autosomique récessive type 12	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10063891000172113	syndrome autosomique récessif d'ataxie cérébelleuse, d'épilepsie et de déficience intellectuelle dû à un déficit en WWOX (WW domain containing oxidoreductase)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4109271000172116	syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en mentale retardatie door WWOX-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4109281000172118	syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke handicap door WWOX-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4109291000172115	syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke beperking door WWOX-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4109301000172119	syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke beperking door deficiëntie van 'WW domain-containing oxidoreductase'	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4109311000172116	autosomaal recessieve spinocerebellaire ataxie type 12	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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