1231309005: Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

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

\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

\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 DNA\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\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 DNA\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Metabolic disease\Disorder of pyrimidine metabolism\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Depletion of mitochondrial DNA\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5072179010 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5072180013 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5072184016 A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5617181000052115 mitokondrie-DNA-depletionssyndrom, myopatisk form sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	Mitochondrial myopathy	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	Depletion of mitochondrial DNA	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	Disorder of pyrimidine metabolism	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5072179010	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072180013	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072184016	A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5617181000052115	mitokondrie-DNA-depletionssyndrom, myopatisk form	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)