1231309005: Mitochondrial deoxyribonucleic acid depletion syndrome myopathic 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 deoxyribonucleic acid depletion syndrome myopathic form

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

\Musculoskeletal finding\Musculoskeletal disorder\...

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

5072180013 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5072179010	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5072180013	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core