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Terminology chevron_right Concepts chevron_right 5315003

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Component

5315003

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)

Shortest Term

Adenosine deaminase superactivity

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

Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)

SCTID: 5315003, Primitive, Active

5315003|Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)|

en Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction
en Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
en Hnsha (hereditary nonspherocytic haemolytic anaemia) due to increased adenosine deaminase activity
en Hnsha (hereditary nonspherocytic hemolytic anemia) due to increased adenosine deaminase activity
en Hereditary nonspherocytic haemolytic anaemia due to increased adenosine deaminase activity
en Adenosine deaminase superactivity
en Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity
en Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)

Expression

5315003 |Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)|
 <<< 32612005 |Disorder of purine metabolism (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
301317008 |Hereditary nonspherocytic hemolytic anemia (disorder)| : 
        { 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)| }
        { 363713009 |Has interpretation (attribute)| = 52101004 |Present (qualifier value)|,
363714003 |Interprets (attribute)| = 404227002 |Hemolysis (observable entity)| }
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5159270018 - Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction (en) View
5159270018	en	Synonym (core metadata concept)	Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5159269019 - Hemolytic anemia due to erythrocyte adenosine deaminase overproduction (en) View
5159269019	en	Synonym (core metadata concept)	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2620892014 - Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to increased adenosine deaminase activity (en) View
2620892014	en	Synonym (core metadata concept)	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to increased adenosine deaminase activity	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
2620893016 - Hereditary nonspherocytic hemolytic anemia (HNSHA) due to increased adenosine deaminase activity (en) View
2620893016	en	Synonym (core metadata concept)	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to increased adenosine deaminase activity	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
9915019 - HNSHA due to increased adenosine deaminase activity (en) View
9915019	en	Synonym (core metadata concept)	HNSHA due to increased adenosine deaminase activity	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
5159273016 - HNSHA (hereditary nonspherocytic haemolytic anaemia) due to increased adenosine deaminase activity (en) View
5159273016	en	Synonym (core metadata concept)	HNSHA (hereditary nonspherocytic haemolytic anaemia) due to increased adenosine deaminase activity	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5159271019 - HNSHA (hereditary nonspherocytic hemolytic anemia) due to increased adenosine deaminase activity (en) View
5159271019	en	Synonym (core metadata concept)	HNSHA (hereditary nonspherocytic hemolytic anemia) due to increased adenosine deaminase activity	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3780603016 - Hereditary nonspherocytic haemolytic anaemia due to increased adenosine deaminase activity (en) View
3780603016	en	Synonym (core metadata concept)	Hereditary nonspherocytic haemolytic anaemia due to increased adenosine deaminase activity	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
496572011 - Adenosine deaminase superactivity (en) View
496572011	en	Synonym (core metadata concept)	Adenosine deaminase superactivity	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2915153015 - Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (en) View
2915153015	en	Synonym (core metadata concept)	Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2913809012 - Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder) (en) View
2913809012	en	Fully specified name (core metadata concept)	Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2612440017 - Hereditary nonspherocytic hemolytic anemia (HNSHA) due to increased adenosine deaminase activity (disorder) (en) View
2612440017	en	Fully specified name (core metadata concept)	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to increased adenosine deaminase activity (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
791238013 - HNSHA due to increased adenosine deaminase activity (disorder) (en) View
791238013	en	Fully specified name (core metadata concept)	HNSHA due to increased adenosine deaminase activity (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (234547022) - 5315003 -> 234401000 (116680003) View
116680003 \|Is a (attribute)\|	234401000 \|Erythrocyte enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15468047029) - 5315003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15468048023) - 5315003 -> 32612005 (116680003) View
116680003 \|Is a (attribute)\|	32612005 \|Disorder of purine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (804962021) - 5315003 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9186325024) - 5315003 -> 84054007 (363714003) View
363714003 \|Interprets (attribute)\|	84054007 \|Erythrocyte destruction, function (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11104946024) - 5315003 -> 52101004 (363713009) View
363713009 \|Has interpretation (attribute)\|	52101004 \|Present (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11104947026) - 5315003 -> 404227002 (363714003) View
363714003 \|Interprets (attribute)\|	404227002 \|Hemolysis (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2267920027) - 5315003 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2734097026) - 5315003 -> 73320003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	73320003 \|Hemolysis (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6763396024) - 5315003 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6763398020) - 5315003 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6767612026) - 5315003 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6767613020) - 5315003 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2734096024) - 5315003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267919022) - 5315003 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (804963027) - 5315003 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1677347023) - 5315003 -> 301317008 (116680003) View
116680003 \|Is a (attribute)\|	301317008 \|Hereditary nonspherocytic hemolytic anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
32612005 View
32612005	Disorder of purine metabolism (disorder)	Disorder of purine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
301317008 View
301317008	Hereditary nonspherocytic hemolytic anemia (disorder)	Hnsha	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 (fc8c9edb-1ad5-50d8-99cf-da76ce18863a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D55.8	TRUE	ALWAYS D55.8	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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