dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 765401006

Production

add

Component

765401006

The component that hold information about this concept.

Fully Specified Name (FSN)

Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)

Shortest Term

Mitochondrial dna depletion syndrome encephalomyopathic form

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 deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)

SCTID: 765401006, Primitive, Active

765401006|Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)|

en Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form
en Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)
en Mitochondrial dna depletion syndrome encephalomyopathic form

Expression

765401006 |Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)|
 <<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
447292006 |Mitochondrial encephalomyopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
237995002 |Depletion of mitochondrial deoxyribonucleic acid (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3658344015 - Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (en) View
3658344015	en	Synonym (core metadata concept)	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3658342016 - Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) (en) View
3658342016	en	Fully specified name (core metadata concept)	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3658343014 - Mitochondrial DNA depletion syndrome encephalomyopathic form (en) View
3658343014	en	Synonym (core metadata concept)	Mitochondrial DNA depletion syndrome encephalomyopathic form	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9269157023) - 765401006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15103685024) - 765401006 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269150020) - 765401006 -> 237995002 (116680003) View
116680003 \|Is a (attribute)\|	237995002 \|Depletion of mitochondrial deoxyribonucleic acid (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269151024) - 765401006 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269152028) - 765401006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269153022) - 765401006 -> 447292006 (116680003) View
116680003 \|Is a (attribute)\|	447292006 \|Mitochondrial encephalomyopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269154027) - 765401006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269155026) - 765401006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269156025) - 765401006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9269158029) - 765401006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237995002 View
237995002	Depletion of mitochondrial deoxyribonucleic acid (disorder)	Depletion of mitochondrial dna	900000000000074008 \|Necessary but not sufficient concept 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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1208937004 View
1208937004	Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder)	Mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197052008 View
1197052008	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)	Booth haworth dilling syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765100000 View
765100000	Ribonucleotide reductase regulatory tp53 inducible subunit m2b-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder)	Mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765403009 View
765403009	F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Fbxl4-related early onset mitochondrial encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715338007 View
715338007	Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Fatal infantile lactic acidosis with methylmalonic aciduria	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 (3a13bbb5-644c-59d1-8f41-cfd06e3f69a5) 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 (6363c41d-8874-5f62-be64-0b6ce25c59a2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8 \| 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)\|

Terminology chevron_right Concepts chevron_right 765401006

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches