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Terminology chevron_right Concepts chevron_right 783142006

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Component

783142006

The component that hold information about this concept.

Fully Specified Name (FSN)

Pancytopenia due to ikaros family zinc finger 1 mutations (disorder)

Shortest Term

Pancytopenia due to ikzf1 mutations

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

Pancytopenia due to ikaros family zinc finger 1 mutations (disorder)

SCTID: 783142006, Primitive, Active

783142006|Pancytopenia due to ikaros family zinc finger 1 mutations (disorder)|

en Combined immunodeficiency due to ikaros deficiency
en Pancytopenia due to ikaros family zinc finger 1 mutations
en Pancytopenia due to ikaros family zinc finger 1 mutations (disorder)
en Pancytopenia due to ikzf1 mutations

Expression

783142006 |Pancytopenia due to ikaros family zinc finger 1 mutations (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
442459007 |Combined immunodeficiency disease (disorder)| + 
127034005 |Thiếu máu toàn thể| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 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)| = 61928009 |Platelet count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 767002 |White blood cell count (procedure)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 74848003 |Hemostatic function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3757818013 - Combined immunodeficiency due to IKAROS deficiency (en) View
3757818013	en	Synonym (core metadata concept)	Combined immunodeficiency due to IKAROS deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3757819017 - Pancytopenia due to IKAROS family zinc finger 1 mutations (en) View
3757819017	en	Synonym (core metadata concept)	Pancytopenia due to IKAROS family zinc finger 1 mutations	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3757817015 - Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) (en) View
3757817015	en	Fully specified name (core metadata concept)	Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3757816012 - Pancytopenia due to IKZF1 mutations (en) View
3757816012	en	Synonym (core metadata concept)	Pancytopenia due to IKZF1 mutations	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11577133021) - 783142006 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11577136029) - 783142006 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12436982026) - 783142006 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12436983020) - 783142006 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272130023) - 783142006 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272131022) - 783142006 -> 442459007 (116680003) View
116680003 \|Is a (attribute)\|	442459007 \|Combined immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272132026) - 783142006 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272133020) - 783142006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272134025) - 783142006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272136028) - 783142006 -> 127034005 (116680003) View
116680003 \|Is a (attribute)\|	127034005 \|Thiếu máu toàn thể\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272137021) - 783142006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11272138027) - 783142006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577134026) - 783142006 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577135025) - 783142006 -> 61928009 (363714003) View
363714003 \|Interprets (attribute)\|	61928009 \|Platelet count (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577137022) - 783142006 -> 767002 (363714003) View
363714003 \|Interprets (attribute)\|	767002 \|White blood cell count (procedure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577138028) - 783142006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
442459007 View
442459007	Combined immunodeficiency disease (disorder)	Combined immunodeficiency disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
127034005 View
127034005	Thiếu máu toàn thể	Pancytopenia	900000000000073002 \|Sufficiently defined by necessary conditions 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 (a4663c18-32b7-579c-9a9e-35585bab7741) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.8	TRUE	ALWAYS D81.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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