765401006: Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

\Central nervous system finding\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

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

\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

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

\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

\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\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\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\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\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\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3658342016 Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3658343014 Mitochondrial DNA depletion syndrome encephalomyopathic form en Synonym Active Only initial character case insensitive SNOMED CT core module

3658344015 Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Is a	Depletion of mitochondrial deoxyribonucleic acid	true	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Is a	Mitochondrial encephalomyopathy	true	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Inferred relationship	Existential restriction modifier
F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Inferred relationship	Existential restriction modifier
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Inferred relationship	Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3658342016	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3658343014	Mitochondrial DNA depletion syndrome encephalomyopathic form	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3658344015	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module