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Terminology chevron_right Concepts chevron_right 234632005

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Component

234632005

The component that hold information about this concept.

Fully Specified Name (FSN)

Immunodeficiency associated with chromosomal abnormality (disorder)

Shortest Term

Immunodeficiency associated with chromosomal abnormality

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

Immunodeficiency associated with chromosomal abnormality (disorder)

SCTID: 234632005, Primitive, Active

234632005|Immunodeficiency associated with chromosomal abnormality (disorder)|

en Immunodeficiency associated with chromosomal abnormality
en Immunodeficiency associated with chromosomal abnormality (disorder)

Expression

234632005 |Immunodeficiency associated with chromosomal abnormality (disorder)|
 <<< 58606001 |Primary immune deficiency disorder (disorder)| : 
        { 47429007 |Associated with (attribute)| = 409709004 |Chromosomal disorder (disorder)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
351567012 - Immunodeficiency associated with chromosomal abnormality (en) View
351567012	en	Synonym (core metadata concept)	Immunodeficiency associated with chromosomal abnormality	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
622978015 - Immunodeficiency associated with chromosomal abnormality (disorder) (en) View
622978015	en	Fully specified name (core metadata concept)	Immunodeficiency associated with chromosomal abnormality (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2712285029) - 234632005 -> 409709004 (47429007) View
47429007 \|Associated with (attribute)\|	409709004 \|Chromosomal disorder (disorder)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11169877028) - 234632005 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2712284025) - 234632005 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (48381020) - 234632005 -> 234631003 (116680003) View
116680003 \|Is a (attribute)\|	234631003 \|Immunodeficiency with major anomalies (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (514435026) - 234632005 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2708325028) - 234632005 -> 58606001 (116680003) View
116680003 \|Is a (attribute)\|	58606001 \|Primary immune deficiency disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
58606001 View
58606001	Primary immune deficiency disorder (disorder)	Primary immunodeficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
763713000 View
763713000	Idiopathic cd4 lymphocytopenia (disorder)	Idiopathic cd4 lymphocytopenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765327005 View
765327005	Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)	Congenital sideroblastic anemia, b-cell immunodeficiency, periodic fever, developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766705006 View
766705006	Immunodeficiency due to ficolin 3 deficiency (disorder)	Immunodeficiency due to ficolin 3 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766879006 View
766879006	Combined immunodeficiency due to ox40 deficiency (disorder)	Combined immunodeficiency due to ox40 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723334006 View
723334006	Immunodeficiency due to mutation of fas-associated protein with death domain gene (disorder)	Fadd-related immunodeficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723443003 View
723443003	Neutrophil immunodeficiency syndrome (disorder)	Neutrophil immunodeficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723508002 View
723508002	Ras-associated autoimmune leukoproliferative disease (disorder)	Autoimmune lymphoproliferative syndrome type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724275005 View
724275005	Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Primary immunodeficiency due to mcm4 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724276006 View
724276006	X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Autoimmune enteropathy type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718717004 View
718717004	Primary immunodeficiency syndrome due to p14 deficiency (disorder)	Primary immunodeficiency syndrome with short stature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722288007 View
722288007	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722290008 View
722290008	Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	Caspase 8 deficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
4434006 View
4434006	Bloom syndrome (disorder)	Bloom syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68504005 View
68504005	Ataxia-telangiectasia syndrome (disorder)	Louis-bar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234633000 View
234633000	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder)	Centromeric instability, immunodeficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234634006 View
234634006	Chromosome 18 syndromes and antibody deficiency (disorder)	Chromosome 18 syndromes and antibody deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234635007 View
234635007	Chromosome 22 abnormalities with hypogammaglobulinemia (disorder)	Chromosome 22 abnormalities with hypogammaglobulinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234637004 View
234637004	Deletion of x-chromosome and hypogammaglobulinemia (disorder)	Deletion of x-chromosome and hypogammaglobulinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234638009 View
234638009	Microcephaly, normal intelligence and immunodeficiency (disorder)	Seemanova syndrome ii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234639001 View
234639001	Triple x syndrome, epilepsy, and hypogammaglobulinemia (disorder)	Triple x syndrome, epilepsy, and hypogammaglobulinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234640004 View
234640004	18-p syndrome with associated immunodeficiency (disorder)	Immunodeficiency associated with 18p syndrome	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 (d950bb5e-be2c-587d-afae-e84b2396ce69) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D82.8	TRUE	ALWAYS D82.8	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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