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Terminology chevron_right Concepts chevron_right 63565007

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Component

63565007

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital anemia (disorder)

Shortest Term

Congenital anemia

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital anemia (disorder)

SCTID: 63565007, Defined, Active

63565007|Congenital anemia (disorder)|

en Congenital anaemia
en Congenital anemia
en Congenital anemia (disorder)

Expression

63565007 |Congenital anemia (disorder)|
 === 271737000 |Anemia (disorder)| + 
66091009 |Congenital disease (disorder)| + 
165397008 |Hemoglobin below reference range (finding)| + 
165423001 |Red blood cell count below reference range (finding)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
499626019 - Congenital anaemia (en) View
499626019	en	Synonym (core metadata concept)	Congenital anaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
105647010 - Congenital anemia (en) View
105647010	en	Synonym (core metadata concept)	Congenital anemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
802862013 - Congenital anemia (disorder) (en) View
802862013	en	Fully specified name (core metadata concept)	Congenital anemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
105648017 - Congenital anemia, NOS (en) View
105648017	en	Synonym (core metadata concept)	Congenital anemia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13891269023) - 63565007 -> 165397008 (116680003) View
116680003 \|Is a (attribute)\|	165397008 \|Hemoglobin below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891270024) - 63565007 -> 165423001 (116680003) View
116680003 \|Is a (attribute)\|	165423001 \|Red blood cell count below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (832456024) - 63565007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (251489022) - 63565007 -> 271737000 (116680003) View
116680003 \|Is a (attribute)\|	271737000 \|Anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2268790029) - 63565007 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5988448020) - 63565007 -> 414022008 (116680003) View
116680003 \|Is a (attribute)\|	414022008 \|Disorder of cellular component of blood (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9337886021) - 63565007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9337888022) - 63565007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9341331023) - 63565007 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9341332027) - 63565007 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (251488025) - 63565007 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832455023) - 63565007 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2268789022) - 63565007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2694991026) - 63565007 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (832457026) - 63565007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
271737000 View
271737000	Anemia (disorder)	Anemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
165397008 View
165397008	Hemoglobin below reference range (finding)	Hemoglobin low	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
165423001 View
165423001	Red blood cell count below reference range (finding)	Erythropenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88854002 View
88854002	Congenital hypoplastic anemia (disorder)	Diamond-blackfan anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
788944005 View
788944005	Gamma delta beta thalassemia (disorder)	Gamma delta beta thalassemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28975000 View
28975000	Constitutional aplastic anemia (disorder)	Congenital aplastic anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
48983004 View
48983004	X chromosome-linked sideroblastic anemia	X-linked sideroblastic anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
765327005 View
765327005	Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)	Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
734349003 View
734349003	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Atr-16 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
72331000119105 View
72331000119105	Thalassemia in mother complicating pregnancy (disorder)	Maternal thalassemia in pregnancy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
719402008 View
719402008	Lethal hemolytic anemia and genital anomaly syndrome (disorder)	Waters west syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715342005 View
715342005	Alpha thalassemia x-linked intellectual disability syndrome (disorder)	Alpha thalassemia x-linked intellectual deficit	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42601008 View
42601008	Congenital hemolytic anemia (disorder)	Congenital hemolytic anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
10806241000119108 View
10806241000119108	Thalassemia in mother complicating childbirth (disorder)	Maternal thalassemia in childbirth	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
444976001 View
444976001	Congenital hemolytic uremic syndrome (disorder)	Congenital hemolytic uremic syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
42484009 View
42484009	Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder)	Hexokinase deficiency anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
389214003 View
389214003	Diaphyseal dysplasia with anemia (disorder)	Ghosal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
5300004 View
5300004	Hemoglobin bart's hydrops syndrome (disorder)	Alpha thalassemia major	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
18273004 View
18273004	Unstable hemoglobin disease (disorder)	Unstable hemoglobin disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
34925000 View
34925000	Megaloblastic anemia due to inborn errors of metabolism (disorder)	Congenital pernicious anemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
47526003 View
47526003	Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)	Hnsha due to nadh diaphorase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
52951008 View
52951008	Congenital dyserythropoietic anemia (disorder)	Cda	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73190000 View
73190000	Epsilon gamma delta beta^0^ thalassemia (disorder)	Epsilon gamma delta beta^0^ thalassemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85422000 View
85422000	Alpha plus thalassemia non deletion type (disorder)	Alpha^+^ thalassemia, nondeletion type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86242003 View
86242003	Alpha plus thalassemia deletion type (disorder)	Alpha^+^ thalassemia, deletion type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190996002 View
190996002	Severe combined immunodeficiency with reticular dysgenesis (disorder)	Severe combined immunodefiency with reticular dysgenesis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234353009 View
234353009	Congenital transferrin deficiency (disorder)	Congenital transferrin deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
276578004 View
276578004	Physiological anemia of infancy (disorder)	Physiological anemia of infancy	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 (26acea67-9271-53f7-a2ea-3700a1010123) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	P61.4	TRUE	ALWAYS P61.4	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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