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Terminology chevron_right Concepts chevron_right 278991002

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Component

278991002

The component that hold information about this concept.

Fully Specified Name (FSN)

Sialic storage disease (disorder)

Shortest Term

Sialic storage disease

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

Sialic storage disease (disorder)

SCTID: 278991002, Primitive, Active

278991002|Sialic storage disease (disorder)|

en Sialic storage disease
en Sialic storage disease (disorder)

Expression

278991002 |Sialic storage disease (disorder)|
 <<< 238050009 |Disorder of sialic acid metabolism (disorder)| + 
279081001 |Dysostosis multiplex group (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
416079015 - Sialic storage disease (en) View
416079015	en	Synonym (core metadata concept)	Sialic storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
672218018 - Sialic storage disease (disorder) (en) View
672218018	en	Fully specified name (core metadata concept)	Sialic storage disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15681308025) - 278991002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681309022) - 278991002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (605997025) - 278991002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3351018021) - 278991002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (605998024) - 278991002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4980866026) - 278991002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990459020) - 278991002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023495024) - 278991002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519602020) - 278991002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519603026) - 278991002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (605996023) - 278991002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3450904023) - 278991002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1739979022) - 278991002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (605995022) - 278991002 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (97385029) - 278991002 -> 238050009 (116680003) View
116680003 \|Is a (attribute)\|	238050009 \|Disorder of sialic acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (97386028) - 278991002 -> 279081001 (116680003) View
116680003 \|Is a (attribute)\|	279081001 \|Dysostosis multiplex group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
238050009 View
238050009	Disorder of sialic acid metabolism (disorder)	Disorder of sialic acid metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
279081001 View
279081001	Dysostosis multiplex group (disorder)	Dysostosis multiplex group	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
34566007 View
34566007	Sialic acid storage disease, severe infantile type (disorder)	Sialuria, french type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
87074006 View
87074006	Salla disease (disorder)	Salla disease	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 (010fce5f-db43-5142-9c36-4bca5f45bc27) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E77.8	TRUE	ALWAYS E77.8	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 (e8da4af5-7ef5-51f5-aed7-46af6ff5bacf) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E77.1	TRUE	ALWAYS E77.1	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 278991002

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