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Terminology chevron_right Concepts chevron_right 284449005

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Component

284449005

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital total lipodystrophy (disorder)

Shortest Term

Seip's 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

Congenital total lipodystrophy (disorder)

SCTID: 284449005, Primitive, Active

284449005|Congenital total lipodystrophy (disorder)|

en Congenital generalised lipodystrophy
en Congenital generalized lipodystrophy
en Congenital total lipodystrophy
en Congenital total lipodystrophy (disorder)
en Lipoatrophic diabetes mellitus
en Total lipoatrophy
en Beradinelli-seip syndrome
en Berardinelli-seip congenital lipodystrophy
en Berardinelli's syndrome
en Lawrence-seip syndrome
en Seip's syndrome

Expression

284449005 |Congenital total lipodystrophy (disorder)|
 <<< 71325002 |Lipodystrophy (disorder)| + 
363039000 |Congenital connective tissue disorder (disorder)| + 
111474003 |Disorder involving the integument of fetus or newborn (disorder)|
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 67769002 |Structure of subcutaneous fatty tissue (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3029702014 - Congenital generalised lipodystrophy (en) View
3029702014	en	Synonym (core metadata concept)	Congenital generalised lipodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3029742016 - Congenital generalized lipodystrophy (en) View
3029742016	en	Synonym (core metadata concept)	Congenital generalized lipodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
423112012 - Congenital total lipodystrophy (en) View
423112012	en	Synonym (core metadata concept)	Congenital total lipodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
678342011 - Congenital total lipodystrophy (disorder) (en) View
678342011	en	Fully specified name (core metadata concept)	Congenital total lipodystrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1495355018 - Lipoatrophic diabetes mellitus (en) View
1495355018	en	Synonym (core metadata concept)	Lipoatrophic diabetes mellitus	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1495356017 - Total lipoatrophy (en) View
1495356017	en	Synonym (core metadata concept)	Total lipoatrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3029802015 - Beradinelli-Seip syndrome (en) View
3029802015	en	Synonym (core metadata concept)	Beradinelli-Seip syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3029639016 - Berardinelli-Seip congenital lipodystrophy (en) View
3029639016	en	Synonym (core metadata concept)	Berardinelli-Seip congenital lipodystrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1495354019 - Familial lipodystrophic diabetes (en) View
1495354019	en	Synonym (core metadata concept)	Familial lipodystrophic diabetes	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
423109014 - Berardinelli's syndrome (en) View
423109014	en	Synonym (core metadata concept)	Berardinelli's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
423110016 - Lawrence-Seip syndrome (en) View
423110016	en	Synonym (core metadata concept)	Lawrence-Seip syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
423111017 - Seip's syndrome (en) View
423111017	en	Synonym (core metadata concept)	Seip's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880861021) - 284449005 -> 111474003 (116680003) View
116680003 \|Is a (attribute)\|	111474003 \|Disorder involving the integument of fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2581748029) - 284449005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3338278023) - 284449005 -> 67769002 (363698007) View
363698007 \|Finding site (attribute)\|	67769002 \|Structure of subcutaneous fatty tissue (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3338279026) - 284449005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5002740025) - 284449005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5002741026) - 284449005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5002742022) - 284449005 -> 67769002 (363698007) View
363698007 \|Finding site (attribute)\|	67769002 \|Structure of subcutaneous fatty tissue (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3338276022) - 284449005 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3338277029) - 284449005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (627099024) - 284449005 -> 67769002 (363698007) View
363698007 \|Finding site (attribute)\|	67769002 \|Structure of subcutaneous fatty tissue (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (627100027) - 284449005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (627101028) - 284449005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2581749021) - 284449005 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2537071029) - 284449005 -> 363039000 (116680003) View
116680003 \|Is a (attribute)\|	363039000 \|Congenital connective tissue disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (105896026) - 284449005 -> 71325002 (116680003) View
116680003 \|Is a (attribute)\|	71325002 \|Lipodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111474003 View
111474003	Disorder involving the integument of fetus or newborn (disorder)	Perinatal dermatological disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363039000 View
363039000	Congenital connective tissue disorder (disorder)	Congenital connective tissue disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
71325002 View
71325002	Lipodystrophy (disorder)	Loạn dưỡng mỡ	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1156814008 View
1156814008	Generalized congenital lipodystrophy with myopathy (disorder)	Generalised congenital lipodystrophy type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721973006 View
721973006	Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Rajab spranger syndrome	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 (57f79909-1edc-525c-9465-00fdf739f8f9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.1	TRUE	ALWAYS E88.1 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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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