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Terminology chevron_right Concepts chevron_right 459062008

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Language with ID “bfaaf940-ad4d-53f2-bc79-7b4889320e5a” doesn’t exist. Perhaps it was deleted?

Component

459062008

The component that hold information about this concept.

Fully Specified Name (FSN)

Fatal congenital nonlysosomal heart glycogenosis (disorder)

Shortest Term

Fatal congenital nonlysosomal heart glycogenosis

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

Fatal congenital nonlysosomal heart glycogenosis (disorder)

SCTID: 459062008, Primitive, Active

459062008|Fatal congenital nonlysosomal heart glycogenosis (disorder)|

en Fatal congenital nonlysosomal heart glycogenosis
en Fatal congenital nonlysosomal heart glycogenosis (disorder)

Expression

459062008 |Fatal congenital nonlysosomal heart glycogenosis (disorder)|
 <<< 13213009 |Congenital heart disease (disorder)| + 
29633007 |Glycogen storage disease (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 80891009 |Heart 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
2922252012 - Fatal congenital nonlysosomal heart glycogenosis (en) View
2922252012	en	Synonym (core metadata concept)	Fatal congenital nonlysosomal heart glycogenosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2922245010 - Fatal congenital nonlysosomal heart glycogenosis (disorder) (en) View
2922245010	en	Fully specified name (core metadata concept)	Fatal congenital nonlysosomal heart glycogenosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069786027) - 459062008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4986311029) - 459062008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528842020) - 459062008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528843026) - 459062008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4676451021) - 459062008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4676452025) - 459062008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4676453024) - 459062008 -> 80891009 (363698007) View
363698007 \|Finding site (attribute)\|	80891009 \|Heart structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4986310028) - 459062008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4986312020) - 459062008 -> 80891009 (363698007) View
363698007 \|Finding site (attribute)\|	80891009 \|Heart structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4676448025) - 459062008 -> 13213009 (116680003) View
116680003 \|Is a (attribute)\|	13213009 \|Congenital heart disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4676449022) - 459062008 -> 29633007 (116680003) View
116680003 \|Is a (attribute)\|	29633007 \|Glycogen storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4676450022) - 459062008 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (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
13213009 View
13213009	Congenital heart disease (disorder)	Bệnh tim bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
29633007 View
29633007	Glycogen storage disease (disorder)	Glycogenosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	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 (6c621490-1719-5759-8812-8b0f4000f390) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	I43.1	TRUE	ALWAYS I43.1 \| THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE	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 (9cd0abe2-e10a-52ae-b286-dfd102811367) 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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