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Terminology chevron_right Concepts chevron_right 764946008

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Component

764946008

The component that hold information about this concept.

Fully Specified Name (FSN)

Constitutional mismatch repair deficiency syndrome (disorder)

Shortest Term

Constitutional mismatch repair deficiency syndrome

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

Constitutional mismatch repair deficiency syndrome (disorder)

SCTID: 764946008, Primitive, Active

764946008|Constitutional mismatch repair deficiency syndrome (disorder)|

en Cmmr-d (constitutional mismatch repair deficiency) syndrome
en Constitutional mismatch repair deficiency syndrome
en Constitutional mismatch repair deficiency syndrome (disorder)

Expression

764946008 |Constitutional mismatch repair deficiency syndrome (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
58606001 |Primary immune deficiency 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
3655712018 - CMMR-D (constitutional mismatch repair deficiency) syndrome (en) View
3655712018	en	Synonym (core metadata concept)	CMMR-D (constitutional mismatch repair deficiency) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3655713011 - Constitutional mismatch repair deficiency syndrome (en) View
3655713011	en	Synonym (core metadata concept)	Constitutional mismatch repair deficiency syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3655711013 - Constitutional mismatch repair deficiency syndrome (disorder) (en) View
3655711013	en	Fully specified name (core metadata concept)	Constitutional mismatch repair deficiency syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9202849025) - 764946008 -> 409709004 (42752001) View
42752001 \|Due to (attribute)\|	409709004 \|Chromosomal disorder (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9202850025) - 764946008 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9202852022) - 764946008 -> 234632005 (116680003) View
116680003 \|Is a (attribute)\|	234632005 \|Immunodeficiency associated with chromosomal abnormality (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9202853028) - 764946008 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9202854023) - 764946008 -> 414030009 (116680003) View
116680003 \|Is a (attribute)\|	414030009 \|Disorder of immune structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224936027) - 764946008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224937020) - 764946008 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16229496027) - 764946008 -> 58606001 (116680003) View
116680003 \|Is a (attribute)\|	58606001 \|Primary immune deficiency disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11171941023) - 764946008 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9202851026) - 764946008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9202855024) - 764946008 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
58606001 View
58606001	Primary immune deficiency disorder (disorder)	Primary immunodeficiency	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
1356823008 View
1356823008	Constitutional mismatch repair deficiency syndrome due to pms1 homolog 2, mismatch repair system component mutation (disorder)	Constitutional mismatch repair deficiency syndrome due to pms2 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351576009 View
1351576009	Autosomal recessive hyperimmunoglobulin m syndrome due to mutator s homolog 6 deficiency (disorder)	Hyper igm syndrome due to msh6	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 (168a3fdd-311e-55d2-a262-c7a9059a3da7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D81.2	TRUE	ALWAYS D81.2 \| 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)\|
ExtendedMap object (39fa2b4c-acf7-5b87-92ea-97b4a26c6fc8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D80.8	TRUE	ALWAYS D80.8 \| 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)\|
ExtendedMap object (3d40ae2c-f155-53a6-9aab-e1dfb236dbc7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Z80.9	TRUE	ALWAYS Z80.9	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)\|
ExtendedMap object (7b652718-87c1-50b2-9088-bc7f9daa7d00) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.9	TRUE	ALWAYS Q99.9	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)\|
ExtendedMap object (a4ffd834-510a-5f28-a1a1-67fab1ccab9d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D84.8	TRUE	ALWAYS D84.8	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)\|
ExtendedMap object (c1829e0d-8e03-51b6-a4d3-91e0c15bae6d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8	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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