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Terminology chevron_right Concepts chevron_right 718212006

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Component

718212006

The component that hold information about this concept.

Fully Specified Name (FSN)

Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)

Shortest Term

Tmem70 related mitochondrial encephalo-cardio-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 encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)

SCTID: 718212006, Primitive, Active

718212006|Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)|

en Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
en Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
en Tmem70 related mitochondrial encephalo-cardio-myopathy

Expression

718212006 |Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)|
 <<< 736652002 |Neonatal metabolic disorder (disorder)| + 
57809008 |Myocardial disease (disorder)| + 
81308009 |Disorder of brain (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
363696006 |Neonatal cardiovascular disorder (disorder)| + 
16851005 |Mitochondrial myopathy (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255407002 |Neonatal (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 74281007 |Myocardium structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3311523015 - Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (en) View
3311523015	en	Synonym (core metadata concept)	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3311522013 - Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) (en) View
3311522013	en	Fully specified name (core metadata concept)	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3311525010 - TMEM70 related mitochondrial encephalo-cardio-myopathy (en) View
3311525010	en	Synonym (core metadata concept)	TMEM70 related mitochondrial encephalo-cardio-myopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6595006029) - 718212006 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595007022) - 718212006 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595008028) - 718212006 -> 74281007 (363698007) View
363698007 \|Finding site (attribute)\|	74281007 \|Myocardium structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595009020) - 718212006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7239368020) - 718212006 -> 736652002 (116680003) View
116680003 \|Is a (attribute)\|	736652002 \|Neonatal metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6594998027) - 718212006 -> 16851005 (116680003) View
116680003 \|Is a (attribute)\|	16851005 \|Mitochondrial myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6594999024) - 718212006 -> 57809008 (116680003) View
116680003 \|Is a (attribute)\|	57809008 \|Myocardial disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595000024) - 718212006 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595001023) - 718212006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595002027) - 718212006 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595003021) - 718212006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595004026) - 718212006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6595005025) - 718212006 -> 363696006 (116680003) View
116680003 \|Is a (attribute)\|	363696006 \|Neonatal cardiovascular disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
736652002 View
736652002	Neonatal metabolic disorder (disorder)	Neonatal metabolic disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363696006 View
363696006	Neonatal cardiovascular disorder (disorder)	Neonatal cardiovascular disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
16851005 View
16851005	Mitochondrial myopathy (disorder)	Ragged red myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
57809008 View
57809008	Myocardial disease (disorder)	Myocardial disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
81308009 View
81308009	Disorder of brain (disorder)	Encephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (135f4c8f-da69-5284-9cb9-130c190d0cca) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.3	TRUE	ALWAYS G71.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|

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