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Terminology chevron_right Concepts chevron_right 34566007

Production

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Component

34566007

The component that hold information about this concept.

Fully Specified Name (FSN)

Sialic acid storage disease, severe infantile type (disorder)

Shortest Term

Sialuria, french type

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 acid storage disease, severe infantile type (disorder)

SCTID: 34566007, Primitive, Active

34566007|Sialic acid storage disease, severe infantile type (disorder)|

en Infantile sialic acid storage disease
en Sialic acid storage disease, severe infantile type
en Sialic acid storage disease, severe infantile type (disorder)
en Sialuria, infantile type
en Sialuria, french type

Expression

34566007 |Sialic acid storage disease, severe infantile type (disorder)|
 <<< 278991002 |Sialic storage disease (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
485873019 - Infantile sialic acid storage disease (en) View
485873019	en	Synonym (core metadata concept)	Infantile sialic acid storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
57684019 - Sialic acid storage disease, severe infantile type (en) View
57684019	en	Synonym (core metadata concept)	Sialic acid storage disease, severe infantile type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
766104016 - Sialic acid storage disease, severe infantile type (disorder) (en) View
766104016	en	Fully specified name (core metadata concept)	Sialic acid storage disease, severe infantile type (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
57686017 - Sialuria, infantile type (en) View
57686017	en	Synonym (core metadata concept)	Sialuria, infantile type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
57685018 - Sialuria, French type (en) View
57685018	en	Synonym (core metadata concept)	Sialuria, French type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (758264029) - 34566007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3474661021) - 34566007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (758263024) - 34566007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4981697020) - 34566007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4991091024) - 34566007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023533028) - 34566007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522942029) - 34566007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522943023) - 34566007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (758265028) - 34566007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3434526025) - 34566007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1764223022) - 34566007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (758267020) - 34566007 -> 24484000 (246112005) View
246112005 \|Severity (attribute)\|	24484000 \|Severe (severity modifier) (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (758266027) - 34566007 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (204192022) - 34566007 -> 278991002 (116680003) View
116680003 \|Is a (attribute)\|	278991002 \|Sialic storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
278991002 View
278991002	Sialic storage disease (disorder)	Sialic storage disease	900000000000074008 \|Necessary but not sufficient concept 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 (333370a8-abdd-599b-a679-07a36831c909) 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 (c7e93565-7f09-5d9e-ad0f-e1dfe037d1e8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.0	TRUE	ALWAYS E74.0	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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