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Terminology chevron_right Concepts chevron_right 46659004

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Component

46659004

The component that hold information about this concept.

Fully Specified Name (FSN)

Von hippel-lindau syndrome (disorder)

Shortest Term

Lindau' disease

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

Von hippel-lindau syndrome (disorder)

SCTID: 46659004, Primitive, Active

46659004|Von hippel-lindau syndrome (disorder)|

vi Hội chứng von hippel-lindau
en Vhl (von hippel-lindau) syndrome
en Cerebroretinal angiomatosis
en Familial cerebello-retinal angiomatosis
en Von hippel-lindau syndrome
en Von hippel-lindau syndrome (disorder)
en Lindau' disease
en Lindau's disease

Expression

46659004 |Von hippel-lindau syndrome (disorder)|
 <<< 78572006 |Neurocutaneous syndrome (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 108369006 |Neoplasm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 108369006 |Neoplasm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
491391000003113 - hội chứng Von Hippel-Lindau (vi) View
491391000003113	vi	Synonym (core metadata concept)	hội chứng Von Hippel-Lindau	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
494573016 - VHL - von Hippel-Lindau syndrome (en) View
494573016	en	Synonym (core metadata concept)	VHL - von Hippel-Lindau syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
4579935012 - VHL (Von Hippel-Lindau) syndrome (en) View
4579935012	en	Synonym (core metadata concept)	VHL (Von Hippel-Lindau) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
494572014 - von Hippel-Lindau syndrome (en) View
494572014	en	Synonym (core metadata concept)	von Hippel-Lindau syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
77768010 - Cerebroretinal angiomatosis (en) View
77768010	en	Synonym (core metadata concept)	Cerebroretinal angiomatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
77766014 - Familial cerebello-retinal angiomatosis (en) View
77766014	en	Synonym (core metadata concept)	Familial cerebello-retinal angiomatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
77765013 - Von Hippel-Lindau syndrome (en) View
77765013	en	Synonym (core metadata concept)	Von Hippel-Lindau syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
784032018 - Von Hippel-Lindau syndrome (disorder) (en) View
784032018	en	Fully specified name (core metadata concept)	Von Hippel-Lindau syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
77767017 - Lindau' disease (en) View
77767017	en	Synonym (core metadata concept)	Lindau' disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
494574010 - Lindau's disease (en) View
494574010	en	Synonym (core metadata concept)	Lindau's disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3328251025) - 46659004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3454669022) - 46659004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4987078026) - 46659004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515111029) - 46659004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515113026) - 46659004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515114021) - 46659004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515115022) - 46659004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13068963020) - 46659004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13647745026) - 46659004 -> 108369006 (116676008) View
116676008 \|Associated morphology (attribute)\|	108369006 \|Neoplasm (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647746025) - 46659004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647747023) - 46659004 -> 108369006 (116676008) View
116676008 \|Associated morphology (attribute)\|	108369006 \|Neoplasm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4971098024) - 46659004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976732028) - 46659004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976733022) - 46659004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4998793024) - 46659004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515112020) - 46659004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1675997028) - 46659004 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (788967024) - 46659004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3328252021) - 46659004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4971097025) - 46659004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5042026022) - 46659004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5042027029) - 46659004 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4798922028) - 46659004 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2596572020) - 46659004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596573026) - 46659004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2805997020) - 46659004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2805998026) - 46659004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2656877025) - 46659004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2656878024) - 46659004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1768212029) - 46659004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2515640028) - 46659004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224047020) - 46659004 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224048026) - 46659004 -> 75523000 (116680003) View
116680003 \|Is a (attribute)\|	75523000 \|Congenital hamartosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (788964028) - 46659004 -> 108369006 (116676008) View
116676008 \|Associated morphology (attribute)\|	108369006 \|Neoplasm (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (788965027) - 46659004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (788966026) - 46659004 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (788968025) - 46659004 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (788969022) - 46659004 -> 14350002 (116676008) View
116676008 \|Associated morphology (attribute)\|	14350002 \|Angiomatosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2228377024) - 46659004 -> 223176004 (116680003) View
116680003 \|Is a (attribute)\|	223176004 \|Cerebellar disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267321024) - 46659004 -> 51398009 (116676008) View
116676008 \|Associated morphology (attribute)\|	51398009 \|Hamartoma (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224043024) - 46659004 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224044029) - 46659004 -> 312575000 (116680003) View
116680003 \|Is a (attribute)\|	312575000 \|Multisystem disorder u-v (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224045028) - 46659004 -> 128217007 (116680003) View
116680003 \|Is a (attribute)\|	128217007 \|Disease of skin and/or subcutaneous tissue of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224046027) - 46659004 -> 78572006 (116680003) View
116680003 \|Is a (attribute)\|	78572006 \|Neurocutaneous syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78572006 View
78572006	Neurocutaneous syndrome (disorder)	Phacomatosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	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 (cc77edec-36dc-52e9-b3dd-5e1336174613) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q85.8	TRUE	ALWAYS Q85.8	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)\|

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