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Terminology chevron_right Concepts chevron_right 234392002

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Component

234392002

The component that hold information about this concept.

Fully Specified Name (FSN)

Hemoglobin e/beta thalassemia disease (disorder)

Shortest Term

Hemoglobin e/beta thalassemia disease

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

Hemoglobin e/beta thalassemia disease (disorder)

SCTID: 234392002, Primitive, Active

234392002|Hemoglobin e/beta thalassemia disease (disorder)|

en Haemoglobin e/beta thalassaemia disease
en Double heterozygous for hb e and beta thalassaemia
en Double heterozygous for hb e and beta thalassemia
en Hemoglobin e/beta thalassemia disease
en Hemoglobin e/beta thalassemia disease (disorder)

Expression

234392002 |Hemoglobin e/beta thalassemia disease (disorder)|
 <<< 65959000 |Beta thalassemia (disorder)| + 
25065001 |Hemoglobin e disease (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 41898006 |Erythrocyte (cell)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
351169016 - Haemoglobin E/beta thalassaemia disease (en) View
351169016	en	Synonym (core metadata concept)	Haemoglobin E/beta thalassaemia disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
351168012 - Double heterozygous for Hb E and beta thalassaemia (en) View
351168012	en	Synonym (core metadata concept)	Double heterozygous for Hb E and beta thalassaemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
351170015 - Double heterozygous for Hb E and beta thalassemia (en) View
351170015	en	Synonym (core metadata concept)	Double heterozygous for Hb E and beta thalassemia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
351167019 - Hemoglobin E/beta thalassemia disease (en) View
351167019	en	Synonym (core metadata concept)	Hemoglobin E/beta thalassemia disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
622704011 - Hemoglobin E/beta thalassemia disease (disorder) (en) View
622704011	en	Fully specified name (core metadata concept)	Hemoglobin E/beta thalassemia disease (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15238887025) - 234392002 -> 65959000 (116680003) View
116680003 \|Is a (attribute)\|	65959000 \|Beta thalassemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15238888024) - 234392002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15238889027) - 234392002 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15238890020) - 234392002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (513976021) - 234392002 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7007164020) - 234392002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7007165021) - 234392002 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2712040024) - 234392002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2712041023) - 234392002 -> 250228007 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250228007 \|Red blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2253595020) - 234392002 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (513975020) - 234392002 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (48053023) - 234392002 -> 25065001 (116680003) View
116680003 \|Is a (attribute)\|	25065001 \|Hemoglobin e disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
25065001 View
25065001	Hemoglobin e disease (disorder)	Homozygous for hb e	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65959000 View
65959000	Beta thalassemia (disorder)	Beta thalassemia	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
685101000119106 View
685101000119106	Hemoglobin e beta plus thalassemia (disorder)	Hemoglobin e beta plus thalassemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
685111000119109 View
685111000119109	Hemoglobin e beta zero thalassemia (disorder)	Hemoglobin e beta zero thalassemia	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 (f55f5c1f-2d95-58ed-90ff-2310526e30b3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D58.2	TRUE	ALWAYS D58.2	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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