dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 4434006

Production

add

Component

4434006

The component that hold information about this concept.

Fully Specified Name (FSN)

Bloom syndrome (disorder)

Shortest Term

Bloom 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

Bloom syndrome (disorder)

SCTID: 4434006, Primitive, Active

4434006|Bloom syndrome (disorder)|

en Congenital telangiectatic erythema syndrome
en Bloom syndrome
en Bloom syndrome (disorder)
en Bs - bloom syndrome

Expression

4434006 |Bloom syndrome (disorder)|
 <<< 36138009 |Congenital immunodeficiency disease (disorder)| + 
234632005 |Immunodeficiency associated with chromosomal abnormality (disorder)| + 
41483000 |Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 47429007 |Associated with (attribute)| = 409709004 |Chromosomal disorder (disorder)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
7534016 - Congenital telangiectatic erythema syndrome (en) View
7534016	en	Synonym (core metadata concept)	Congenital telangiectatic erythema syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
7533010 - Bloom syndrome (en) View
7533010	en	Synonym (core metadata concept)	Bloom syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
781458010 - Bloom syndrome (disorder) (en) View
781458010	en	Fully specified name (core metadata concept)	Bloom syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1230086015 - BS - Bloom syndrome (en) View
1230086015	en	Synonym (core metadata concept)	BS - Bloom syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280431025) - 4434006 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2732919026) - 4434006 -> 409709004 (47429007) View
47429007 \|Associated with (attribute)\|	409709004 \|Chromosomal disorder (disorder)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11170785024) - 4434006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5019818020) - 4434006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524157020) - 4434006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524158026) - 4434006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2732920021) - 4434006 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (782832027) - 4434006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267101025) - 4434006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995573026) - 4434006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (782833021) - 4434006 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (220224023) - 4434006 -> 312565003 (116680003) View
116680003 \|Is a (attribute)\|	312565003 \|Multisystem disorder a-b (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (220225024) - 4434006 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (220226020) - 4434006 -> 234632005 (116680003) View
116680003 \|Is a (attribute)\|	234632005 \|Immunodeficiency associated with chromosomal abnormality (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (220227027) - 4434006 -> 41483000 (116680003) View
116680003 \|Is a (attribute)\|	41483000 \|Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41483000 View
41483000	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Multiple malformation syndrome, small stature, without skeletal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234632005 View
234632005	Immunodeficiency associated with chromosomal abnormality (disorder)	Immunodeficiency associated with chromosomal abnormality	900000000000074008 \|Necessary but not sufficient concept 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 (49dad83d-b025-5a4d-9dcd-4fc898fc3153) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8	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)\|

Terminology chevron_right Concepts chevron_right 4434006

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches