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Terminology chevron_right Concepts chevron_right 8933000

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Component

8933000

The component that hold information about this concept.

Fully Specified Name (FSN)

Crigler-najjar syndrome, type i (disorder)

Shortest Term

Crigler-najjar type 1

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

Crigler-najjar syndrome, type i (disorder)

SCTID: 8933000, Primitive, Active

8933000|Crigler-najjar syndrome, type i (disorder)|

vi Hội chứng crigler-najjar (là một bệnh dy truyền hiếm gặp gây rối loạn chuyển hóa bilirubin), typ i
en Bilirubin glucuronosyltransferase deficiency
en Deficiency of glucuronosyltransferase
en Glucuronyltransferase deficiency
en Crigler-najjar syndrome, type i (disorder)
en Bilirubin udp glucuronyl transferase deficiency
en Crigler-najjar syndrome type i
en Crigler-najjar syndrome, type i
en Crigler-najjar type 1
en Udp glucuronyl transferase deficiency

Expression

8933000 |Crigler-najjar syndrome, type i (disorder)|
 <<< 235856003 |Disorder of liver (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| + 
28259009 |Crigler-najjar syndrome (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 10200004 |Liver structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
450711000003115 - hội chứng Crigler-Najjar (là một bệnh dy truyền hiếm gặp gây rối loạn chuyển hóa bilirubin), typ I (vi) View
450711000003115	vi	Synonym (core metadata concept)	hội chứng Crigler-Najjar (là một bệnh dy truyền hiếm gặp gây rối loạn chuyển hóa bilirubin), typ I	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
508462010 - Bilirubin glucuronosyltransferase deficiency (en) View
508462010	en	Synonym (core metadata concept)	Bilirubin glucuronosyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
15748017 - Deficiency of glucuronosyltransferase (en) View
15748017	en	Synonym (core metadata concept)	Deficiency of glucuronosyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
15749013 - Glucuronyltransferase deficiency (en) View
15749013	en	Synonym (core metadata concept)	Glucuronyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
508461015 - Crigler-Najjar syndrome (en) View
508461015	en	Synonym (core metadata concept)	Crigler-Najjar syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
508460019 - Crigler-Najjar syndrome, NOS (en) View
508460019	en	Synonym (core metadata concept)	Crigler-Najjar syndrome, NOS	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
832201013 - Crigler-Najjar syndrome, type I (disorder) (en) View
832201013	en	Fully specified name (core metadata concept)	Crigler-Najjar syndrome, type I (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
508459012 - Bilirubin UDP glucuronyl transferase deficiency (en) View
508459012	en	Synonym (core metadata concept)	Bilirubin UDP glucuronyl transferase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
508463017 - Crigler-Najjar syndrome type I (en) View
508463017	en	Synonym (core metadata concept)	Crigler-Najjar syndrome type I	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
15747010 - Crigler-Najjar syndrome, type I (en) View
15747010	en	Synonym (core metadata concept)	Crigler-Najjar syndrome, type I	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
508458016 - Crigler-Najjar type 1 (en) View
508458016	en	Synonym (core metadata concept)	Crigler-Najjar type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
15750013 - UDP glucuronyl transferase deficiency (en) View
15750013	en	Synonym (core metadata concept)	UDP glucuronyl transferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880842022) - 8933000 -> 42357009 (116680003) View
116680003 \|Is a (attribute)\|	42357009 \|Disorder of digestive system specific to fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (898508023) - 8933000 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (898509026) - 8933000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1684838024) - 8933000 -> 55056006 (116680003) View
116680003 \|Is a (attribute)\|	55056006 \|Hepatic porphyria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2843418023) - 8933000 -> 235856003 (116680003) View
116680003 \|Is a (attribute)\|	235856003 \|Disorder of liver (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2772497029) - 8933000 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (294125027) - 8933000 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294126026) - 8933000 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294127024) - 8933000 -> 69518005 (116680003) View
116680003 \|Is a (attribute)\|	69518005 \|Congenital anomaly of digestive system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294128025) - 8933000 -> 235904007 (116680003) View
116680003 \|Is a (attribute)\|	235904007 \|Hyperbilirubinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294123023) - 8933000 -> 28259009 (116680003) View
116680003 \|Is a (attribute)\|	28259009 \|Crigler-najjar syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (294124028) - 8933000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
42357009 View
42357009	Disorder of digestive system specific to fetus or newborn (disorder)	Perinatal digestive system disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28259009 View
28259009	Crigler-najjar syndrome (disorder)	Crigler-najjar 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
235856003 View
235856003	Disorder of liver (disorder)	Bệnh gan	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 (d43a5bdb-b144-52ba-98b1-70a1e05ccbd3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E80.5	TRUE	ALWAYS E80.5	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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