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Terminology chevron_right Concepts chevron_right 722381004

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Component

722381004

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital cataract, nephropathy, encephalopathy syndrome (disorder)

Shortest Term

Crome 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 cataract, nephropathy, encephalopathy syndrome (disorder)

SCTID: 722381004, Primitive, Active

722381004|Congenital cataract, nephropathy, encephalopathy syndrome (disorder)|

en Congenital cataract, nephropathy, encephalopathy syndrome
en Congenital cataract, nephropathy, encephalopathy syndrome (disorder)
en Crome syndrome

Expression

722381004 |Congenital cataract, nephropathy, encephalopathy syndrome (disorder)|
 <<< 79410001 |Congenital cataract (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
95568003 |Renal tubular disorder (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
444691002 |Necrosis of cortex of kidney (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
44513007 |Congenital anomaly of the kidney (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
127294003 |Tổn thương não không do chấn thương và/hoặc do chấn thương| + 
262755005 |Injury of lens (disorder)| + 
897175000 |Structural abnormality of nephron (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 6574001 |Necrosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 58471003 |Renal tubule structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78076003 |Structure of lens of eye (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3331766015 - Congenital cataract, nephropathy, encephalopathy syndrome (en) View
3331766015	en	Synonym (core metadata concept)	Congenital cataract, nephropathy, encephalopathy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3331765016 - Congenital cataract, nephropathy, encephalopathy syndrome (disorder) (en) View
3331765016	en	Fully specified name (core metadata concept)	Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3331767012 - Crome syndrome (en) View
3331767012	en	Synonym (core metadata concept)	Crome syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16380978028) - 722381004 -> 897175000 (116680003) View
116680003 \|Is a (attribute)\|	897175000 \|Structural abnormality of nephron (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779038020) - 722381004 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13823533025) - 722381004 -> 127294003 (116680003) View
116680003 \|Is a (attribute)\|	127294003 \|Tổn thương não không do chấn thương và/hoặc do chấn thương\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13827724026) - 722381004 -> 262755005 (116680003) View
116680003 \|Is a (attribute)\|	262755005 \|Injury of lens (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069387023) - 722381004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280526025) - 722381004 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10750921022) - 722381004 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11343723020) - 722381004 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779047028) - 722381004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6779048022) - 722381004 -> 6574001 (116676008) View
116676008 \|Associated morphology (attribute)\|	6574001 \|Necrosis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6779050025) - 722381004 -> 58471003 (363698007) View
363698007 \|Finding site (attribute)\|	58471003 \|Renal tubule structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6779051026) - 722381004 -> 609587005 (116676008) View
116676008 \|Associated morphology (attribute)\|	609587005 \|Congenital cataract (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6779052022) - 722381004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6779053028) - 722381004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791435024) - 722381004 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527942021) - 722381004 -> 44513007 (116680003) View
116680003 \|Is a (attribute)\|	44513007 \|Congenital anomaly of the kidney (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527944022) - 722381004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527945023) - 722381004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527948020) - 722381004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539287028) - 722381004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539289025) - 722381004 -> 58471003 (363698007) View
363698007 \|Finding site (attribute)\|	58471003 \|Renal tubule structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539290023) - 722381004 -> 6574001 (116676008) View
116676008 \|Associated morphology (attribute)\|	6574001 \|Necrosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10750920023) - 722381004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779037026) - 722381004 -> 79410001 (116680003) View
116680003 \|Is a (attribute)\|	79410001 \|Congenital cataract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779039028) - 722381004 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779040026) - 722381004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779041027) - 722381004 -> 95568003 (116680003) View
116680003 \|Is a (attribute)\|	95568003 \|Renal tubular disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779042023) - 722381004 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779043029) - 722381004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779044024) - 722381004 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779045020) - 722381004 -> 444691002 (116680003) View
116680003 \|Is a (attribute)\|	444691002 \|Necrosis of cortex of kidney (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779046021) - 722381004 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6779049025) - 722381004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897175000 View
897175000	Structural abnormality of nephron (disorder)	Abnormal nephron morphology	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
444691002 View
444691002	Necrosis of cortex of kidney (disorder)	Renal cortical necrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
127294003 View
127294003	Tổn thương não không do chấn thương và/hoặc do chấn thương	Brain damage	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
262755005 View
262755005	Injury of lens (disorder)	Injury of lens	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95568003 View
95568003	Renal tubular disorder (disorder)	Rối loạn ống thận	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
44513007 View
44513007	Congenital anomaly of the kidney (disorder)	Congenital anomaly of kidney	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
79410001 View
79410001	Congenital cataract (disorder)	Congenital cataract	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	900000000000074008 \|Necessary but not sufficient concept 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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (6737c34f-767a-5c3a-81fa-c47d301d1518) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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