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Terminology chevron_right Concepts chevron_right 417651000

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Component

417651000

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital hereditary endothelial dystrophy (disorder)

Shortest Term

Congenital hereditary endothelial dystrophy

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 hereditary endothelial dystrophy (disorder)

SCTID: 417651000, Primitive, Active

417651000|Congenital hereditary endothelial dystrophy (disorder)|

en Congenital hereditary endothelial dystrophy
en Congenital hereditary endothelial dystrophy (disorder)
en Ched-congenital hereditary endothelial dystrophy

Expression

417651000 |Congenital hereditary endothelial dystrophy (disorder)|
 <<< 77797009 |Hereditary corneal dystrophy (disorder)| + 
9839007 |Anomaly of chromosome pair 20 (disorder)| + 
416960004 |Corneal endothelial dystrophy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
276654001 |Congenital malformation (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 65431007 |Structure of corneal endothelium (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25610001 |Chromosome pair 20 (cell 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
2549868019 - Congenital hereditary endothelial dystrophy (en) View
2549868019	en	Synonym (core metadata concept)	Congenital hereditary endothelial dystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2547521014 - Congenital hereditary endothelial dystrophy (disorder) (en) View
2547521014	en	Fully specified name (core metadata concept)	Congenital hereditary endothelial dystrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2554123017 - CHED-congenital hereditary endothelial dystrophy (en) View
2554123017	en	Synonym (core metadata concept)	CHED-congenital hereditary endothelial dystrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13763578025) - 417651000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763579022) - 417651000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763580020) - 417651000 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2798626022) - 417651000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3548491027) - 417651000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4987144023) - 417651000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4987146020) - 417651000 -> 25610001 (363698007) View
363698007 \|Finding site (attribute)\|	25610001 \|Chromosome pair 20 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010365026) - 417651000 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2798627029) - 417651000 -> 25610001 (363698007) View
363698007 \|Finding site (attribute)\|	25610001 \|Chromosome pair 20 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2798629026) - 417651000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3465937020) - 417651000 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3483725020) - 417651000 -> 65431007 (363698007) View
363698007 \|Finding site (attribute)\|	65431007 \|Structure of corneal endothelium (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3522823029) - 417651000 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3522824024) - 417651000 -> 65431007 (363698007) View
363698007 \|Finding site (attribute)\|	65431007 \|Structure of corneal endothelium (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2798625021) - 417651000 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2798628023) - 417651000 -> 28726007 (363698007) View
363698007 \|Finding site (attribute)\|	28726007 \|Corneal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3012572023) - 417651000 -> 111521006 (116680003) View
116680003 \|Is a (attribute)\|	111521006 \|Corneal degeneration (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2777013029) - 417651000 -> 77797009 (116680003) View
116680003 \|Is a (attribute)\|	77797009 \|Hereditary corneal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2777014024) - 417651000 -> 9839007 (116680003) View
116680003 \|Is a (attribute)\|	9839007 \|Anomaly of chromosome pair 20 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2777015020) - 417651000 -> 416960004 (116680003) View
116680003 \|Is a (attribute)\|	416960004 \|Corneal endothelial dystrophy (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
9839007 View
9839007	Anomaly of chromosome pair 20 (disorder)	Anomaly of chromosome pair 20	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
416960004 View
416960004	Corneal endothelial dystrophy (disorder)	Corneal endothelial dystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
276654001 View
276654001	Congenital malformation (disorder)	Dị tật bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
77797009 View
77797009	Hereditary corneal dystrophy (disorder)	Hereditary corneal dystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
720749004 View
720749004	Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)	Harboyan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
417395001 View
417395001	Congenital hereditary endothelial dystrophy, 2 (disorder)	Congenital hereditary endothelial dystrophy, 2	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 (a31bccfd-eeb6-5656-ab16-ac0d9e7aaecd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H18.5	TRUE	ALWAYS H18.5	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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