dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 787172004

Production

add

Component

787172004

The component that hold information about this concept.

Fully Specified Name (FSN)

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)

Shortest Term

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

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

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)

SCTID: 787172004, Primitive, Active

787172004|Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)|

en Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
en Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)

Expression

787172004 |Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)|
 <<< 46252003 |Progressive external ophthalmoplegia (disorder)| + 
57130002 |Myopathy of extraocular muscles (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
257277002 |Combined disorder of muscle and peripheral nerve (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 371398005 |Eye region structure (body structure)|,
246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 67833000 |Structure of extraocular muscle (body structure)| }
        { 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
3774799018 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (en) View
3774799018	en	Synonym (core metadata concept)	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3774798014 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) (en) View
3774798014	en	Fully specified name (core metadata concept)	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16398298027) - 787172004 -> 1264400000 (363698007) View
363698007 \|Finding site (attribute)\|	1264400000 \|Structure of motor nervous system (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15277559022) - 787172004 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15277560028) - 787172004 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15277561029) - 787172004 -> 2667000 (363713009) View
363713009 \|Has interpretation (attribute)\|	2667000 \|Absent (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533992020) - 787172004 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11533993026) - 787172004 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11533994021) - 787172004 -> 19373007 (116680003) View
116680003 \|Is a (attribute)\|	19373007 \|External ophthalmoplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12098130020) - 787172004 -> 46252003 (116680003) View
116680003 \|Is a (attribute)\|	46252003 \|Progressive external ophthalmoplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12098131024) - 787172004 -> 67833000 (363698007) View
363698007 \|Finding site (attribute)\|	67833000 \|Structure of extraocular muscle (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12098132028) - 787172004 -> 57130002 (116680003) View
116680003 \|Is a (attribute)\|	57130002 \|Myopathy of extraocular muscles (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533987023) - 787172004 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533988029) - 787172004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533990028) - 787172004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533991029) - 787172004 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533995022) - 787172004 -> 257277002 (116680003) View
116680003 \|Is a (attribute)\|	257277002 \|Combined disorder of muscle and peripheral nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533996023) - 787172004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11533997025) - 787172004 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11534000025) - 787172004 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11534001026) - 787172004 -> 371398005 (363698007) View
363698007 \|Finding site (attribute)\|	371398005 \|Eye region structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570761023) - 787172004 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570762027) - 787172004 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570763021) - 787172004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	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
257277002 View
257277002	Combined disorder of muscle and peripheral nerve (disorder)	Myoneural disorder	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
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 (e92d9f94-b05b-5b87-b584-17630a135849) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.8	TRUE	ALWAYS G71.8 \| 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 787172004

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches