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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

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

\Hereditary ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

\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
\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
\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

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

\Finding of head and neck region\Head finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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
\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

\Eye / vision finding\Visual system disorder\Disorder of oculomotor system\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Eye / vision finding\Third cranial nerve finding\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Neurological finding\Cranial nerve finding\Third cranial nerve finding\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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
\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
\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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
\Disease\Disorder of body system\Visual system disorder\Disorder of oculomotor system\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Third cranial nerve disease\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous 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
\Disease\Disorder of body system\Disorder of nervous system\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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Generalized convulsive epilepsy\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\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
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency

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

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 Active Only initial character case insensitive SNOMED CT core module

3703328015 Autosomal recessive spinocerebellar ataxia type 12 en Synonym Active Entire term case insensitive SNOMED CT core module

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 SNOMED CT core module

3703330018 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3703331019 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Third cranial nerve disease	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Generalized convulsive epilepsy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Third cranial nerve finding	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Finding site	Oculomotor nerve structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	Active	Only initial character case insensitive	SNOMED CT core module
3703328015	Autosomal recessive spinocerebellar ataxia type 12	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
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	SNOMED CT core module
3703330018	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3703331019	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module