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Terminology chevron_right Concepts chevron_right 764733009

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Component

764733009

The component that hold information about this concept.

Fully Specified Name (FSN)

Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)

Shortest Term

Progressive external ophthalmoplegia, myopathy, emaciation syndrome

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

Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)

SCTID: 764733009, Primitive, Active

764733009|Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)|

en Mitochondrial dna (deoxyribonucleic acid) maintenance syndrome due to mgme1 (mitochondrial genome maintenance exonuclease 1) deficiency
en Peo (progressive external ophthalmoplegia) myopathy emaciation syndrome
en Progressive external ophthalmoplegia, myopathy, emaciation syndrome
en Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)

Expression

764733009 |Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)|
 <<< 16851005 |Mitochondrial myopathy (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
50122000 |Metabolic encephalopathy (disorder)| + 
66091009 |Congenital disease (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
57130002 |Myopathy of extraocular muscles (disorder)| + 
46252003 |Progressive external ophthalmoplegia (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 371398005 |Eye region 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)| }
        { 363698007 |Finding site (attribute)| = 67833000 |Structure of extraocular muscle (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 2667000 |Absent (qualifier value)|,
363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 363698007 |Finding site (attribute)| = 1264400000 |Structure of motor nervous system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3654906011 - Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency (en) View
3654906011	en	Synonym (core metadata concept)	Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3654905010 - PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome (en) View
3654905010	en	Synonym (core metadata concept)	PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3654902013 - Progressive external ophthalmoplegia, myopathy, emaciation syndrome (en) View
3654902013	en	Synonym (core metadata concept)	Progressive external ophthalmoplegia, myopathy, emaciation syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3654903015 - Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder) (en) View
3654903015	en	Fully specified name (core metadata concept)	Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16398133028) - 764733009 -> 1264400000 (363698007) View
363698007 \|Finding site (attribute)\|	1264400000 \|Structure of motor nervous system (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15277048023) - 764733009 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15277049026) - 764733009 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15277050026) - 764733009 -> 2667000 (363713009) View
363713009 \|Has interpretation (attribute)\|	2667000 \|Absent (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12095139020) - 764733009 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12095140022) - 764733009 -> 57130002 (116680003) View
116680003 \|Is a (attribute)\|	57130002 \|Myopathy of extraocular muscles (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12095141021) - 764733009 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12095142025) - 764733009 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12095143024) - 764733009 -> 67833000 (363698007) View
363698007 \|Finding site (attribute)\|	67833000 \|Structure of extraocular muscle (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194359024) - 764733009 -> 16851005 (116680003) View
116680003 \|Is a (attribute)\|	16851005 \|Mitochondrial myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194360025) - 764733009 -> 46252003 (116680003) View
116680003 \|Is a (attribute)\|	46252003 \|Progressive external ophthalmoplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194361026) - 764733009 -> 50122000 (116680003) View
116680003 \|Is a (attribute)\|	50122000 \|Metabolic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194362022) - 764733009 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194363028) - 764733009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194364023) - 764733009 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194365024) - 764733009 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194366020) - 764733009 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9194367027) - 764733009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9195976021) - 764733009 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224868023) - 764733009 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224869026) - 764733009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224870025) - 764733009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238904021) - 764733009 -> 371398005 (363698007) View
363698007 \|Finding site (attribute)\|	371398005 \|Eye region structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
57130002 View
57130002	Myopathy of extraocular muscles (disorder)	Extraocular myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
46252003 View
46252003	Progressive external ophthalmoplegia (disorder)	Graefe's disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	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
50122000 View
50122000	Metabolic encephalopathy (disorder)	Metabolic brain syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78689005 View
78689005	Chronic brain syndrome (disorder)	Chronic brain syndrome	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
128289001 View
128289001	Chronic metabolic disorder (disorder)	Chronic metabolic disease	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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (c0bee250-6f39-5536-857a-87b5f1e6f499) 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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