782696001: Recessive mitochondrial ataxia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary ataxia\Recessive mitochondrial ataxia syndrome

\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome

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

\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome

\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid\Recessive mitochondrial ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Recessive mitochondrial ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive mitochondrial ataxia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Recessive mitochondrial ataxia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Recessive mitochondrial ataxia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia\Recessive mitochondrial ataxia syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid\Recessive mitochondrial ataxia syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial deoxyribonucleic acid\Recessive mitochondrial ataxia syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Recessive mitochondrial ataxia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3755256016 Recessive mitochondrial ataxia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3755257013 Recessive mitochondrial ataxia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3755258015 MIRAS - mitochondrial recessive ataxia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Recessive mitochondrial ataxia syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Recessive mitochondrial ataxia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Recessive mitochondrial ataxia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Recessive mitochondrial ataxia syndrome	Is a	Depletion of mitochondrial deoxyribonucleic acid	true	Inferred relationship	Existential restriction modifier
Recessive mitochondrial ataxia syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Recessive mitochondrial ataxia syndrome	Is a	Early onset cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Recessive mitochondrial ataxia syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
Recessive mitochondrial ataxia syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

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
3755256016	Recessive mitochondrial ataxia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3755257013	Recessive mitochondrial ataxia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3755258015	MIRAS - mitochondrial recessive ataxia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module