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Terminology chevron_right Concepts chevron_right 30188007

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Component

30188007

The component that hold information about this concept.

Fully Specified Name (FSN)

Alpha-1-antitrypsin deficiency (disorder)

Shortest Term

Thiếu alpha-1-antitrypsin

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

Alpha-1-antitrypsin deficiency (disorder)

SCTID: 30188007, Primitive, Active

30188007|Alpha-1-antitrypsin deficiency (disorder)|

vi Thiếu alpha-1-antitrypsin
vi Thiếu alpha-1-antitrypsin
vi Thiếu hụt alpha-1-antitrypsin
en Alpha-1-antitrypsin deficiency
en Alpha-1-antitrypsin deficiency (disorder)
en Alpha-1-proteinase inhibitor deficiency

Expression

30188007 |Alpha-1-antitrypsin deficiency (disorder)|
 <<< 238045003 |Disorder of glycoprotein metabolism (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
235903001 |Metabolic and genetic disorder affecting the liver (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
19829001 |Disorder of lung (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| : 
        { 363698007 |Finding site (attribute)| = 10200004 |Liver structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 39607008 |Lung 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
458881000003116 - thiếu alpha-1-antitrypsin (vi) View
458881000003116	vi	Synonym (core metadata concept)	thiếu alpha-1-antitrypsin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
549671000003116 - thiếu alpha-1-antitrypsin (vi) View
549671000003116	vi	Synonym (core metadata concept)	thiếu alpha-1-antitrypsin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
478251000003111 - thiếu hụt alpha-1-antitrypsin (vi) View
478251000003111	vi	Synonym (core metadata concept)	thiếu hụt alpha-1-antitrypsin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
484512015 - Alpha-1-antitrypsin deficiency (en) View
484512015	en	Synonym (core metadata concept)	Alpha-1-antitrypsin deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2735705015 - Alpha-1-antitrypsin deficiency (disorder) (en) View
2735705015	en	Fully specified name (core metadata concept)	Alpha-1-antitrypsin deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
50516016 - alpha-1-Antitrypsin deficiency (en) View
50516016	en	Synonym (core metadata concept)	alpha-1-Antitrypsin deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
761164017 - alpha-1-Antitrypsin deficiency (disorder) (en) View
761164017	en	Fully specified name (core metadata concept)	alpha-1-Antitrypsin deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
50517013 - alpha-1-Proteinase inhibitor deficiency (en) View
50517013	en	Synonym (core metadata concept)	alpha-1-Proteinase inhibitor deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880834021) - 30188007 -> 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 (747494026) - 30188007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (747495025) - 30188007 -> 39607008 (363698007) View
363698007 \|Finding site (attribute)\|	39607008 \|Lung structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (747496029) - 30188007 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197109028) - 30188007 -> 47147007 (116680003) View
116680003 \|Is a (attribute)\|	47147007 \|Congenital anomaly of lung (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2226787026) - 30188007 -> 19829001 (116680003) View
116680003 \|Is a (attribute)\|	19829001 \|Disorder of lung (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197106024) - 30188007 -> 69518005 (116680003) View
116680003 \|Is a (attribute)\|	69518005 \|Congenital anomaly of digestive system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (197111021) - 30188007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1672514023) - 30188007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197107026) - 30188007 -> 238045003 (116680003) View
116680003 \|Is a (attribute)\|	238045003 \|Disorder of glycoprotein metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197108020) - 30188007 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197110022) - 30188007 -> 235903001 (116680003) View
116680003 \|Is a (attribute)\|	235903001 \|Metabolic and genetic disorder affecting the liver (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (197112025) - 30188007 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system 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
19829001 View
19829001	Disorder of lung (disorder)	Bệnh của phổi	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	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
235903001 View
235903001	Metabolic and genetic disorder affecting the liver (disorder)	Rối loạn chuyển hóa và di truyền ảnh hưởng đến gan	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238045003 View
238045003	Disorder of glycoprotein metabolism (disorder)	Glycoprotein metabolism disorder	900000000000074008 \|Necessary but not sufficient concept 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 (18b248e6-4890-5e7b-91f7-6f8398a277a3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.0	TRUE	ALWAYS E88.0	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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