1208937004: Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (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)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
\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)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

\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)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

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

\Hereditary disorder of musculoskeletal system\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)\Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5013635016 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5013636015 mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome, encephalomyopathic form with variable craniofacial anomalies en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5013637012 Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5013638019 Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5013639010 A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5013640012 A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalised atrophy and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5616671000052114 mitokondrie-DNA-depletionssyndrom, encefalomyopatisk form med varierande kraniofaciala anomalier 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 DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Is a	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	true	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Occurrence	Congenital	true	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Finding site	Brain structure	true	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Occurrence	Congenital	true	Inferred relationship	Some	2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5013635016	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5013636015	mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013637012	Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013638019	Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013639010	A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013640012	A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalised atrophy and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5616671000052114	mitokondrie-DNA-depletionssyndrom, encefalomyopatisk form med varierande kraniofaciala anomalier	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)