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Terminology chevron_right Concepts chevron_right 773492007

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Component

773492007

The component that hold information about this concept.

Fully Specified Name (FSN)

Childhood-onset spasticity with hyperglycinemia (disorder)

Shortest Term

Spasticity, ataxia, gait anomalies 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

Childhood-onset spasticity with hyperglycinemia (disorder)

SCTID: 773492007, Primitive, Active

773492007|Childhood-onset spasticity with hyperglycinemia (disorder)|

en Childhood-onset spasticity with hyperglycinaemia
en Childhood-onset spasticity with hyperglycinemia
en Childhood-onset spasticity with hyperglycinemia (disorder)
en Childhood-onset spasticity with variant non-ketotic hyperglycinaemia
en Childhood-onset spasticity with variant non-ketotic hyperglycinemia
en Spasticity, ataxia, gait anomalies syndrome

Expression

773492007 |Childhood-onset spasticity with hyperglycinemia (disorder)|
 <<< 16851005 |Mitochondrial myopathy (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
1119357005 |Spastic ataxia (finding)| + 
763597000 |Hereditary ataxia (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
128283000 |Chronic nervous system disorder (disorder)| + 
128237006 |Chronic disease of musculoskeletal system (disorder)| + 
237939006 |Non-ketotic hyperglycinemia (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 35105006 |Increased (qualifier value)|,
363714003 |Interprets (attribute)| = 6918002 |Muscle tone (observable entity)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3723702011 - Childhood-onset spasticity with hyperglycinaemia (en) View
3723702011	en	Synonym (core metadata concept)	Childhood-onset spasticity with hyperglycinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3723703018 - Childhood-onset spasticity with hyperglycinemia (en) View
3723703018	en	Synonym (core metadata concept)	Childhood-onset spasticity with hyperglycinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3723701016 - Childhood-onset spasticity with hyperglycinemia (disorder) (en) View
3723701016	en	Fully specified name (core metadata concept)	Childhood-onset spasticity with hyperglycinemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3723704012 - Childhood-onset spasticity with variant non-ketotic hyperglycinaemia (en) View
3723704012	en	Synonym (core metadata concept)	Childhood-onset spasticity with variant non-ketotic hyperglycinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3723706014 - Childhood-onset spasticity with variant non-ketotic hyperglycinemia (en) View
3723706014	en	Synonym (core metadata concept)	Childhood-onset spasticity with variant non-ketotic hyperglycinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3723705013 - Spasticity, ataxia, gait anomalies syndrome (en) View
3723705013	en	Synonym (core metadata concept)	Spasticity, ataxia, gait anomalies syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10604234025) - 773492007 -> 221360009 (116680003) View
116680003 \|Is a (attribute)\|	221360009 \|Spasticity (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16288367029) - 773492007 -> 1119357005 (116680003) View
116680003 \|Is a (attribute)\|	1119357005 \|Spastic ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604228021) - 773492007 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10604235029) - 773492007 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604225024) - 773492007 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604226020) - 773492007 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604227027) - 773492007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604229029) - 773492007 -> 35105006 (363713009) View
363713009 \|Has interpretation (attribute)\|	35105006 \|Increased (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604230023) - 773492007 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604231022) - 773492007 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604232026) - 773492007 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604233020) - 773492007 -> 237939006 (116680003) View
116680003 \|Is a (attribute)\|	237939006 \|Non-ketotic hyperglycinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604236028) - 773492007 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604237021) - 773492007 -> 16851005 (116680003) View
116680003 \|Is a (attribute)\|	16851005 \|Mitochondrial myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604238027) - 773492007 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604239024) - 773492007 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604240021) - 773492007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10604241020) - 773492007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1119357005 View
1119357005	Spastic ataxia (finding)	Spastic ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128237006 View
128237006	Chronic disease of musculoskeletal system (disorder)	Chronic musculoskeletal disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128283000 View
128283000	Chronic nervous system disorder (disorder)	Chronic nervous system disease	900000000000073002 \|Sufficiently defined by necessary conditions 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
237939006 View
237939006	Non-ketotic hyperglycinemia (disorder)	Non ketotic hyperglycinemia	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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (887a8124-4c21-5308-ab47-44b237238e84) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.4	TRUE	ALWAYS G11.4 \| 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)\|
ExtendedMap object (b18c87fd-da5d-5f2f-94e5-fcc0cb5e4f3e) 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)\|
ExtendedMap object (d3643b90-c383-5f40-bbbd-775cb9610631) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.5	TRUE	ALWAYS E72.5	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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