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Terminology chevron_right Concepts chevron_right 61598006

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Component

61598006

The component that hold information about this concept.

Fully Specified Name (FSN)

Glycogenosis with glucoaminophosphaturia (disorder)

Shortest Term

Fanconi-bickel 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

Glycogenosis with glucoaminophosphaturia (disorder)

SCTID: 61598006, Primitive, Active

61598006|Glycogenosis with glucoaminophosphaturia (disorder)|

vi Bệnh glycogen với glucoaminophosphat niệu
en Glycogenosis with glucoaminophosphaturia
en Glycogenosis with glucoaminophosphaturia (disorder)
en Pseudo-phlorizin diabetes
en Renal glucose-losing syndrome
en Fanconi-bickel syndrome
en Hepatic glycogenosis with de toni-debre-fanconi syndrome
en Hepatic glycogenosis with de toni-debré-fanconi syndrome

Expression

61598006 |Glycogenosis with glucoaminophosphaturia (disorder)|
 <<< 89166001 |Congenital anomaly of liver (disorder)| + 
29633007 |Glycogen storage disease (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
106000008 |Metabolic renal disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 10200004 |Liver 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
444941000003110 - bệnh glycogen với glucoaminophosphat niệu (vi) View
444941000003110	vi	Synonym (core metadata concept)	bệnh glycogen với glucoaminophosphat niệu	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
102346017 - Glycogenosis with glucoaminophosphaturia (en) View
102346017	en	Synonym (core metadata concept)	Glycogenosis with glucoaminophosphaturia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
800677014 - Glycogenosis with glucoaminophosphaturia (disorder) (en) View
800677014	en	Fully specified name (core metadata concept)	Glycogenosis with glucoaminophosphaturia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
102349012 - Pseudo-phlorizin diabetes (en) View
102349012	en	Synonym (core metadata concept)	Pseudo-phlorizin diabetes	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
102348016 - Renal glucose-losing syndrome (en) View
102348016	en	Synonym (core metadata concept)	Renal glucose-losing syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
102347014 - Fanconi-Bickel syndrome (en) View
102347014	en	Synonym (core metadata concept)	Fanconi-Bickel syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
102351011 - Hepatic glycogenosis with de Toni-Debre-Fanconi syndrome (en) View
102351011	en	Synonym (core metadata concept)	Hepatic glycogenosis with de Toni-Debre-Fanconi syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
102350012 - Hepatic glycogenosis with de Toni-Debré-Fanconi syndrome (en) View
102350012	en	Synonym (core metadata concept)	Hepatic glycogenosis with de Toni-Debré-Fanconi syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15058003020) - 61598006 -> 106000008 (116680003) View
116680003 \|Is a (attribute)\|	106000008 \|Metabolic renal disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13068901020) - 61598006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (827463024) - 61598006 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3413935028) - 61598006 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3413936027) - 61598006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980357021) - 61598006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526597026) - 61598006 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526598020) - 61598006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526599028) - 61598006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526600025) - 61598006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526601026) - 61598006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (248254021) - 61598006 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (248257025) - 61598006 -> 90708001 (116680003) View
116680003 \|Is a (attribute)\|	90708001 \|Kidney disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5981448027) - 61598006 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (827467020) - 61598006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3179216026) - 61598006 -> 363024001 (116680003) View
116680003 \|Is a (attribute)\|	363024001 \|Congenital anomaly of abdomen (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980356028) - 61598006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4980358027) - 61598006 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3181362027) - 61598006 -> 363026004 (116680003) View
116680003 \|Is a (attribute)\|	363026004 \|Congenital anomaly of body cavity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (827465028) - 61598006 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1773082029) - 61598006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (827464029) - 61598006 -> 49596003 (363698007) View
363698007 \|Finding site (attribute)\|	49596003 \|Digestive organ structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (827468026) - 61598006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2037024025) - 61598006 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (827466027) - 61598006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1679031023) - 61598006 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2462774024) - 61598006 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1773081020) - 61598006 -> 86762007 (363698007) View
363698007 \|Finding site (attribute)\|	86762007 \|Structure of digestive system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (248255022) - 61598006 -> 89166001 (116680003) View
116680003 \|Is a (attribute)\|	89166001 \|Congenital anomaly of liver (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (248256023) - 61598006 -> 29633007 (116680003) View
116680003 \|Is a (attribute)\|	29633007 \|Glycogen storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
106000008 View
106000008	Metabolic renal disease (disorder)	Metabolic renal disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
367591000119105 View
367591000119105	Hereditary nephropathy (disorder)	Hereditary nephropathy	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
89166001 View
89166001	Congenital anomaly of liver (disorder)	Dị tật gan bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive 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 (a0c886fa-911e-5209-a812-8a0deaf69133) 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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