1237514002: Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Cerebellar ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\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\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\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\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

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

\Finding of brain\Disorder of brain\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Cerebellar disorder\Cerebellar ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Disorder of head\Disorder of brain\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Cerebellar disorder\Cerebellar ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\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\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\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\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\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\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\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\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome
\Disease\Developmental disorder\Developmental delay\Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5099593019 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5099594013 Mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5099595014 Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Mitochondrial myopathy	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	1
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4

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
5099593019	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5099594013	Mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5099595014	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module