dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 16851005

Production

add

Component

16851005

The component that hold information about this concept.

Fully Specified Name (FSN)

Mitochondrial myopathy (disorder)

Shortest Term

Ragged red myopathy

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Mitochondrial myopathy (disorder)

SCTID: 16851005, Primitive, Active

16851005|Mitochondrial myopathy (disorder)|

vi Bệnh cơ ti thể di truyền
en Mitochondrial myopathy
en Mitochondrial myopathy (disorder)
en Ragged red myopathy

Expression

16851005 |Mitochondrial myopathy (disorder)|
 <<< 26111005 |Metabolic myopathy (disorder)| + 
240096000 |Mitochondrial cytopathy (disorder)| : 
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
604871000003116 - bệnh cơ ti thể di truyền (vi) View
604871000003116	vi	Synonym (core metadata concept)	bệnh cơ ti thể di truyền	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
28528010 - Mitochondrial myopathy (en) View
28528010	en	Synonym (core metadata concept)	Mitochondrial myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
743956014 - Mitochondrial myopathy (disorder) (en) View
743956014	en	Fully specified name (core metadata concept)	Mitochondrial myopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
28529019 - Ragged red myopathy (en) View
28529019	en	Synonym (core metadata concept)	Ragged red myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (711425024) - 16851005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1669679025) - 16851005 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3775644021) - 16851005 -> 26111005 (116680003) View
116680003 \|Is a (attribute)\|	26111005 \|Metabolic myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3775645022) - 16851005 -> 240096000 (116680003) View
116680003 \|Is a (attribute)\|	240096000 \|Mitochondrial cytopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (173542025) - 16851005 -> 52794005 (116680003) View
116680003 \|Is a (attribute)\|	52794005 \|Myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
26111005 View
26111005	Metabolic myopathy (disorder)	Metabolic myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240096000 View
240096000	Mitochondrial cytopathy (disorder)	Mitochondrial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1279845005 View
1279845005	Combined oxidative phosphorylation defect type 39 (disorder)	Combined oxidative phosphorylation defect type 39	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237514002 View
1237514002	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1231309005 View
1231309005	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222644009 View
1222644009	Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder)	Autosomal dominant mitochondrial myopathy with exercise intolerance	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187517009 View
1187517009	Maternally inherited mitochondrial myopathy (disorder)	Maternally inherited mitochondrial myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
472320005 View
472320005	Maternally inherited mitochondrial cardiomyopathy and myopathy (disorder)	Maternally inherited mitochondrial cardiomyopathy and myopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
783057002 View
783057002	Dna replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)	Dna2-related mitochondrial dna deletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783722008 View
783722008	Myopathy and diabetes mellitus (disorder)	Myopathy and diabetes mellitus	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784370005 View
784370005	Mitochondrial myopathy with reversible cytochrome c oxidase deficiency (disorder)	Benign cox (cytochrome c oxidase) deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771509001 View
771509001	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder)	Bệnh cơ tim phì đại và bệnh ống thận do đột biến adn ty thể	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773398005 View
773398005	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)	Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773492007 View
773492007	Childhood-onset spasticity with hyperglycinemia (disorder)	Spasticity, ataxia, gait anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774154008 View
774154008	Periodic paralysis with later-onset distal motor neuropathy (disorder)	Periodic paralysis with later-onset distal motor neuropathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764733009 View
764733009	Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)	Progressive external ophthalmoplegia, myopathy, emaciation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766251006 View
766251006	Lethal infantile mitochondrial myopathy (disorder)	Lethal infantile mitochondrial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724138007 View
724138007	Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)	Myopathy, lactic acidosis and sideroblastic anemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725464001 View
725464001	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732245008 View
732245008	Pure mitochondrial myopathy (disorder)	Pure mitochondrial myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732951005 View
732951005	Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)	Mitochondrial myopathy, lactic acidosis, deafness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733599009 View
733599009	Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder)	Adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717812000 View
717812000	Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Sengers syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718212006 View
718212006	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Tmem70 related mitochondrial encephalo-cardio-myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
447292006 View
447292006	Mitochondrial encephalomyopathy (disorder)	Mitochondrial encephalomyopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
4477007 View
4477007	Juvenile myopathy and lactate acidosis (disorder)	Juvenile myopathy and lactate acidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
37934003 View
37934003	Mitochondrial-lipid-glycogen storage myopathy (disorder)	Mitochondrial-lipid-glycogen storage myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237988006 View
237988006	Nicotinamide adenine dinucleotide coenzyme q reductase deficiency (disorder)	Complex i deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (26b91b74-cd8f-54b8-b8b1-4f13abbe6b5e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.3	TRUE	ALWAYS G71.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (343ac594-7324-5fd4-8511-0b6e4927ce7c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	IFA 57254004 \| Fukuhara syndrome (disorder) \|	IF FUKUHARA SYNDROME CHOOSE E88.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (3add9503-3891-5619-ad5a-57978a124d22) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G73.6	IFA 4477007 \| Juvenile myopathy AND lactate acidosis (disorder) \|	IF JUVENILE MYOPATHY AND LACTATE ACIDOSIS CHOOSE G73.6 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (3c471091-8984-5cb0-9066-09394a358b10) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.0	IFA 37934003 \| Mitochondrial-lipid-glycogen storage myopathy (disorder) \|	IF A CHOOSE E74.0 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (3f10592e-af9b-5413-b63f-40d2d51f2f12) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	OTHERWISE TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|
ExtendedMap object (62e6e78c-7de6-5a95-9472-8f9f2bca4d66) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G73.6	IFA 37934003 \| Mitochondrial-lipid-glycogen storage myopathy (disorder) \|	IF A CHOOSE G73.6 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (94a71ca7-f379-5ddc-b935-8d421a465652) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	I42.4	IFA 472320005 \| Maternally inherited mitochondrial cardiomyopathy and myopathy (disorder) \|	IF MATERNALLY INHERITED MITOCHONDRIAL CARDIOMYOPATHY AND MYOPATHY CHOOSE I42.4 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (ae87bd17-1ebd-57a0-a43d-2525229a3ae5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.3	OTHERWISE TRUE	ALWAYS G71.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (af650238-7678-5bff-8538-3c9312c9d153) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E87.2	IFA 4477007 \| Juvenile myopathy AND lactate acidosis (disorder) \|	IF JUVENILE MYOPATHY AND LACTATE ACIDOSIS CHOOSE E87.2 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (eba49d99-0fdc-5ff8-9af1-2914ce7e086e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	IFA 39925003 \| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (disorder) \|	IF JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE CHOOSE E88.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (26b91b74-cd8f-54b8-b8b1-4f13abbe6b5e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.3	TRUE	ALWAYS G71.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (343ac594-7324-5fd4-8511-0b6e4927ce7c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	IFA 57254004 \| Fukuhara syndrome (disorder) \|	IF FUKUHARA SYNDROME CHOOSE E88.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (3add9503-3891-5619-ad5a-57978a124d22) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G73.6	IFA 4477007 \| Juvenile myopathy AND lactate acidosis (disorder) \|	IF JUVENILE MYOPATHY AND LACTATE ACIDOSIS CHOOSE G73.6 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (3c471091-8984-5cb0-9066-09394a358b10) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.0	IFA 37934003 \| Mitochondrial-lipid-glycogen storage myopathy (disorder) \|	IF A CHOOSE E74.0 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (3f10592e-af9b-5413-b63f-40d2d51f2f12) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	OTHERWISE TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|
ExtendedMap object (62e6e78c-7de6-5a95-9472-8f9f2bca4d66) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G73.6	IFA 37934003 \| Mitochondrial-lipid-glycogen storage myopathy (disorder) \|	IF A CHOOSE G73.6 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (94a71ca7-f379-5ddc-b935-8d421a465652) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	I42.4	IFA 472320005 \| Maternally inherited mitochondrial cardiomyopathy and myopathy (disorder) \|	IF MATERNALLY INHERITED MITOCHONDRIAL CARDIOMYOPATHY AND MYOPATHY CHOOSE I42.4 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (ae87bd17-1ebd-57a0-a43d-2525229a3ae5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.3	OTHERWISE TRUE	ALWAYS G71.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (af650238-7678-5bff-8538-3c9312c9d153) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E87.2	IFA 4477007 \| Juvenile myopathy AND lactate acidosis (disorder) \|	IF JUVENILE MYOPATHY AND LACTATE ACIDOSIS CHOOSE E87.2 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (eba49d99-0fdc-5ff8-9af1-2914ce7e086e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	IFA 39925003 \| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (disorder) \|	IF JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE CHOOSE E88.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|

Terminology chevron_right Concepts chevron_right 16851005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches