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Terminology chevron_right Concepts chevron_right 48983004

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Component

48983004

The component that hold information about this concept.

Fully Specified Name (FSN)

X chromosome-linked sideroblastic anemia

Shortest Term

X-linked sideroblastic 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

X chromosome-linked sideroblastic anemia

SCTID: 48983004, Defined, Active

48983004|X chromosome-linked sideroblastic anemia|

en X-linked sideroblastic anaemia
en X-linked sideroblastic anemia
en X chromosome-linked sideroblastic anaemia
en X chromosome-linked sideroblastic anemia (disorder)
en X chromosome-linked sideroblastic anemia

Expression

48983004 |X chromosome-linked sideroblastic anemia|
 === 41841004 |Sideroblastic anemia (disorder)| + 
403832004 |Inherited disorder of porphyrin metabolism (disorder)| + 
414394009 |Hereditary red blood cell disorder (disorder)| + 
63565007 |Congenital anemia (disorder)| + 
1162976004 |X-linked recessive hereditary disease (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)| }
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3657180012 - X-linked sideroblastic anaemia (en) View
3657180012	en	Synonym (core metadata concept)	X-linked sideroblastic anaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3657179014 - X-linked sideroblastic anemia (en) View
3657179014	en	Synonym (core metadata concept)	X-linked sideroblastic anemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
495279012 - X chromosome-linked sideroblastic anaemia (en) View
495279012	en	Synonym (core metadata concept)	X chromosome-linked sideroblastic anaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
786611011 - X chromosome-linked sideroblastic anemia (en) View
786611011	en	Fully specified name (core metadata concept)	X chromosome-linked sideroblastic anemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
2716922011 - X chromosome-linked sideroblastic anemia (disorder) (en) View
2716922011	en	Fully specified name (core metadata concept)	X chromosome-linked sideroblastic anemia (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
81603013 - X chromosome-linked sideroblastic anemia (en) View
81603013	en	Synonym (core metadata concept)	X chromosome-linked sideroblastic anemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
81604019 - X chromosome-linked sideroblastic anemia, NOS (en) View
81604019	en	Synonym (core metadata concept)	X chromosome-linked sideroblastic 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 (9238329021) - 48983004 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14020633024) - 48983004 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238321024) - 48983004 -> 41841004 (116680003) View
116680003 \|Is a (attribute)\|	41841004 \|Sideroblastic anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238327023) - 48983004 -> 403832004 (116680003) View
116680003 \|Is a (attribute)\|	403832004 \|Inherited disorder of porphyrin metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238328029) - 48983004 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238330027) - 48983004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238796022) - 48983004 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238797029) - 48983004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238798023) - 48983004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238799026) - 48983004 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9337176022) - 48983004 -> 414394009 (116680003) View
116680003 \|Is a (attribute)\|	414394009 \|Hereditary red blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9464992026) - 48983004 -> 63565007 (116680003) View
116680003 \|Is a (attribute)\|	63565007 \|Congenital anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
63565007 View
63565007	Congenital anemia (disorder)	Congenital anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
403832004 View
403832004	Inherited disorder of porphyrin metabolism (disorder)	Inherited disorder of porphyrin metabolism	900000000000074008 \|Necessary but not sufficient concept 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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
719816006 View
719816006	X-linked sideroblastic anemia with spinocerebellar ataxia (disorder)	X-linked sideroblastic anemia with spinocerebellar ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
21412009 View
21412009	X chromosome-linked pyridoxine refractory sideroblastic anemia (disorder)	X chromosome-linked pyridoxine refractory sideroblastic anemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
25443007 View
25443007	X chromosome-linked pyridoxine responsive sideroblastic anemia (disorder)	Pyridoxine responsive sideroblastic anemia	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 (996ec5d6-1afe-5d6a-bf96-1ef797bfe0e5) 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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