765100000: Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

\Central nervous system finding\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

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

\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

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

\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\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\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form\Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy

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

3656181019 Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy en Synonym Active Only initial character case insensitive SNOMED CT core module

3656953012 Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy en Synonym Active Only initial character case insensitive SNOMED CT core module

3656954018 Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3656955017 RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy en Synonym Active Entire term case sensitive SNOMED CT core module

3656956016 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy	Is a	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	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
3656181019	Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3656953012	Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3656954018	Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3656955017	RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3656956016	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module