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Terminology chevron_right Concepts chevron_right 254067002

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Component

254067002

The component that hold information about this concept.

Fully Specified Name (FSN)

Immuno-osseous dysplasia (disorder)

Shortest Term

Immuno-osseous dysplasia

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

Immuno-osseous dysplasia (disorder)

SCTID: 254067002, Primitive, Active

254067002|Immuno-osseous dysplasia (disorder)|

en Immuno-osseous dysplasia
en Immuno-osseous dysplasia (disorder)

Expression

254067002 |Immuno-osseous dysplasia (disorder)|
 <<< 254062008 |Spondyloepimetaphyseal disorder (disorder)| + 
36138009 |Congenital immunodeficiency disease (disorder)| + 
442459007 |Combined immunodeficiency disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378219014 - Immuno-osseous dysplasia (en) View
378219014	en	Synonym (core metadata concept)	Immuno-osseous dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
644908010 - Immuno-osseous dysplasia (disorder) (en) View
644908010	en	Fully specified name (core metadata concept)	Immuno-osseous dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280452022) - 254067002 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4981866023) - 254067002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (473084026) - 254067002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3305549021) - 254067002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11171507022) - 254067002 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579418025) - 254067002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4991288029) - 254067002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023548023) - 254067002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516451029) - 254067002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516452020) - 254067002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6846282029) - 254067002 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6846280021) - 254067002 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6846281020) - 254067002 -> 442459007 (116680003) View
116680003 \|Is a (attribute)\|	442459007 \|Combined immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579411020) - 254067002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3440771026) - 254067002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736328020) - 254067002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473085025) - 254067002 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74160027) - 254067002 -> 254062008 (116680003) View
116680003 \|Is a (attribute)\|	254062008 \|Spondyloepimetaphyseal disorder (disorder)\|	0	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
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254062008 View
254062008	Spondyloepimetaphyseal disorder (disorder)	Spondyloepimetaphyseal disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1177173001 View
1177173001	Congenital progressive bone marrow failure, b-cell immunodeficiency, skeletal dysplasia syndrome (disorder)	Mysm1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1177175008 View
1177175008	Skeletal dysplasia, t-cell immunodeficiency, developmental delay syndrome (disorder)	Extl3-related neuro-immuno-skeletal dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773404000 View
773404000	Roifman syndrome (disorder)	Roifman syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723995003 View
723995003	Schimke immuno-osseous dysplasia (disorder)	Schimke 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 (020fbf79-a68e-5bbb-a1c5-67fbe93f3eca) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.5	TRUE	ALWAYS Q78.5	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 (e8789a07-294b-572b-add9-799b869a9ddf) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.5	TRUE	ALWAYS Q87.5	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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