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Terminology chevron_right Concepts chevron_right 27642008

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Component

27642008

The component that hold information about this concept.

Fully Specified Name (FSN)

Dysmorphic sialidosis, congenital form (disorder)

Shortest Term

Dysmorphic sialidosis, congenital form

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

Dysmorphic sialidosis, congenital form (disorder)

SCTID: 27642008, Primitive, Active

27642008|Dysmorphic sialidosis, congenital form (disorder)|

en Dysmorphic sialidosis, congenital form
en Dysmorphic sialidosis, congenital form (disorder)

Expression

27642008 |Dysmorphic sialidosis, congenital form (disorder)|
 <<< 52186006 |Dysmorphic sialidosis (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
88425004 |Congenital anomaly of nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
46272012 - Dysmorphic sialidosis, congenital form (en) View
46272012	en	Synonym (core metadata concept)	Dysmorphic sialidosis, congenital form	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
758233019 - Dysmorphic sialidosis, congenital form (disorder) (en) View
758233019	en	Fully specified name (core metadata concept)	Dysmorphic sialidosis, congenital form (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13882725026) - 27642008 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16350475026) - 27642008 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (741172021) - 27642008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (741174022) - 27642008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3600648027) - 27642008 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13724201025) - 27642008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13724202021) - 27642008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13724203027) - 27642008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13724204022) - 27642008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13724205023) - 27642008 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13724206024) - 27642008 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (741173027) - 27642008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3243226024) - 27642008 -> 71616004 (363698007) View
363698007 \|Finding site (attribute)\|	71616004 \|Skeletal and/or smooth muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (741171025) - 27642008 -> 91727004 (363698007) View
363698007 \|Finding site (attribute)\|	91727004 \|Muscle tissue (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (192944024) - 27642008 -> 52186006 (116680003) View
116680003 \|Is a (attribute)\|	52186006 \|Dysmorphic sialidosis (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
88425004 View
88425004	Congenital anomaly of nervous system (disorder)	Dị tật bẩm sinh của hệ thần kinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
52186006 View
52186006	Dysmorphic sialidosis (disorder)	Sialidosis, type 2	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 (9bf1754a-cc50-55e7-abf0-b49c5ff6d02a) 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)\|

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