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Terminology chevron_right Concepts chevron_right 720465002

Production

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Component

720465002

The component that hold information about this concept.

Fully Specified Name (FSN)

Adult-onset autosomal recessive sideroblastic anemia (disorder)

Shortest Term

Glrx5 (glutaredoxin 5) related sideroblastic anemia

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

Adult-onset autosomal recessive sideroblastic anemia (disorder)

SCTID: 720465002, Primitive, Active

720465002|Adult-onset autosomal recessive sideroblastic anemia (disorder)|

en Adult-onset autosomal recessive sideroblastic anaemia
en Adult-onset autosomal recessive sideroblastic anemia
en Adult-onset autosomal recessive sideroblastic anemia (disorder)
en Glrx5 (glutaredoxin 5) related sideroblastic anaemia
en Glrx5 (glutaredoxin 5) related sideroblastic anemia

Expression

720465002 |Adult-onset autosomal recessive sideroblastic anemia (disorder)|
 <<< 41841004 |Sideroblastic anemia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
414394009 |Hereditary red blood cell disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)|,
246454002 |Occurrence (attribute)| = 41847000 |Adulthood (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3320931010 - Adult-onset autosomal recessive sideroblastic anaemia (en) View
3320931010	en	Synonym (core metadata concept)	Adult-onset autosomal recessive sideroblastic anaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320928014 - Adult-onset autosomal recessive sideroblastic anemia (en) View
3320928014	en	Synonym (core metadata concept)	Adult-onset autosomal recessive sideroblastic anemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320927016 - Adult-onset autosomal recessive sideroblastic anemia (disorder) (en) View
3320927016	en	Fully specified name (core metadata concept)	Adult-onset autosomal recessive sideroblastic anemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3320930011 - GLRX5 (glutaredoxin 5) related sideroblastic anaemia (en) View
3320930011	en	Synonym (core metadata concept)	GLRX5 (glutaredoxin 5) related sideroblastic anaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3320929018 - GLRX5 (glutaredoxin 5) related sideroblastic anemia (en) View
3320929018	en	Synonym (core metadata concept)	GLRX5 (glutaredoxin 5) related sideroblastic anemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6765747029) - 720465002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6765749026) - 720465002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6767904021) - 720465002 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6767905022) - 720465002 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683614021) - 720465002 -> 414394009 (116680003) View
116680003 \|Is a (attribute)\|	414394009 \|Hereditary red blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683615022) - 720465002 -> 41847000 (246454002) View
246454002 \|Occurrence (attribute)\|	41847000 \|Adulthood (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683616023) - 720465002 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683617025) - 720465002 -> 62574001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	62574001 \|Erythropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6765746022) - 720465002 -> 363137000 (116680003) View
116680003 \|Is a (attribute)\|	363137000 \|Hereditary disorder by system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9503704024) - 720465002 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9503705020) - 720465002 -> 41847000 (246454002) View
246454002 \|Occurrence (attribute)\|	41847000 \|Adulthood (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683612020) - 720465002 -> 41841004 (116680003) View
116680003 \|Is a (attribute)\|	41841004 \|Sideroblastic anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683613026) - 720465002 -> 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
414394009 View
414394009	Hereditary red blood cell disorder (disorder)	Hereditary red blood cell disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41841004 View
41841004	Sideroblastic anemia (disorder)	Sideroblastic anemia	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

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 (aae56b5f-48bd-537b-9fb3-e5ed82e3bfe3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D64.0	TRUE	ALWAYS D64.0	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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