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Terminology chevron_right Concepts chevron_right 30278004

Production

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Language with ID “37db93c0-6785-4564-9c1b-4564ec32588f” doesn’t exist. Perhaps it was deleted?
Language with ID “9eaa7c58-713b-50be-b584-2f5692964d06” doesn’t exist. Perhaps it was deleted?

Component

30278004

The component that hold information about this concept.

Fully Specified Name (FSN)

Kundrat's syndrome (disorder)

Shortest Term

Kundrat 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

Kundrat's syndrome (disorder)

SCTID: 30278004, Primitive, Active

30278004|Kundrat's syndrome (disorder)|

en Kundrat syndrome
en Kundrat's syndrome (disorder)
en Kundrat's syndrome
en Pseudotrisomy d>1< syndrome

Expression

30278004 |Kundrat's syndrome (disorder)|
 <<< 30915001 |Holoprosencephaly sequence (disorder)| + 
702628006 |Congenital anomaly of cerebrum (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 83678007 |Cerebral 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
2838444010 - Kundrat syndrome (en) View
2838444010	en	Synonym (core metadata concept)	Kundrat syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
761264010 - Kundrat's syndrome (disorder) (en) View
761264010	en	Fully specified name (core metadata concept)	Kundrat's syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
50667010 - Kundrat's syndrome (en) View
50667010	en	Synonym (core metadata concept)	Kundrat's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
50668017 - Pseudotrisomy D>1< syndrome (en) View
50668017	en	Synonym (core metadata concept)	Pseudotrisomy D>1< syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5028675022) - 30278004 -> 609521009 (116680003) View
116680003 \|Is a (attribute)\|	609521009 \|Disorder of embryonic structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5895600027) - 30278004 -> 81861006 (363698007) View
363698007 \|Finding site (attribute)\|	81861006 \|Prosencephalon structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15835718029) - 30278004 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5028674021) - 30278004 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028676023) - 30278004 -> 287080001 (116680003) View
116680003 \|Is a (attribute)\|	287080001 \|Congenital anomaly of nervous system of head/neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12074367020) - 30278004 -> 702628006 (116680003) View
116680003 \|Is a (attribute)\|	702628006 \|Congenital anomaly of cerebrum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4995486022) - 30278004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5019789029) - 30278004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5019790022) - 30278004 -> 81861006 (363698007) View
363698007 \|Finding site (attribute)\|	81861006 \|Prosencephalon structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5895599025) - 30278004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521794021) - 30278004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521795022) - 30278004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (747703027) - 30278004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3292939024) - 30278004 -> 81861006 (363698007) View
363698007 \|Finding site (attribute)\|	81861006 \|Prosencephalon structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3292940021) - 30278004 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3456647028) - 30278004 -> 11628009 (363698007) View
363698007 \|Finding site (attribute)\|	11628009 \|Structure of telencephalon (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (747707026) - 30278004 -> 81861006 (363698007) View
363698007 \|Finding site (attribute)\|	81861006 \|Prosencephalon structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1762817021) - 30278004 -> 11628009 (363698007) View
363698007 \|Finding site (attribute)\|	11628009 \|Structure of telencephalon (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2265844025) - 30278004 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (747705023) - 30278004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (747708020) - 30278004 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (747704022) - 30278004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (747702021) - 30278004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (747706024) - 30278004 -> 86522006 (363698007) View
363698007 \|Finding site (attribute)\|	86522006 \|Structure of telencephalon (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (197254024) - 30278004 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197255020) - 30278004 -> 30915001 (116680003) View
116680003 \|Is a (attribute)\|	30915001 \|Holoprosencephaly sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
702628006 View
702628006	Congenital anomaly of cerebrum (disorder)	Congenital anomaly of cerebrum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
30915001 View
30915001	Holoprosencephaly sequence (disorder)	Arhinencephaly	900000000000074008 \|Necessary but not sufficient concept 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

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 (1eb47238-11a7-5e81-9b5f-46f5b26470eb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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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