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

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

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

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

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

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

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

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

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

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

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 (core metadata concept) SNOMED CT core

3658343014 Mitochondrial DNA depletion syndrome encephalomyopathic form en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3658344015 Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3658345019 A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4142311000052112 mitokondrie-DNA-depletionssyndrom, encefalomyopatisk 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 encephalomyopathic form (disorder)	Is a	Depletion of mitochondrial DNA	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	Mitochondrial encephalomyopathy (disorder)	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Inferred relationship	Some
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Inferred relationship	Some
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder)	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Is a	True	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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 (core metadata concept)	SNOMED CT core
3658343014	Mitochondrial DNA depletion syndrome encephalomyopathic form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3658344015	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3658345019	A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4142311000052112	mitokondrie-DNA-depletionssyndrom, encefalomyopatisk form	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)