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Terminology chevron_right Concepts chevron_right 707273001

Production

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Component

707273001

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal dominant dyskeratosis congenita (disorder)

Shortest Term

Autosomal dominant dyskeratosis congenita

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Autosomal dominant dyskeratosis congenita (disorder)

SCTID: 707273001, Defined, Active

707273001|Autosomal dominant dyskeratosis congenita (disorder)|

en Autosomal dominant dyskeratosis congenita
en Autosomal dominant dyskeratosis congenita (disorder)

Expression

707273001 |Autosomal dominant dyskeratosis congenita (disorder)|
 === 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
74911008 |Dyskeratosis congenita (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 2097009 |Dyskeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 63206006 |Ectoderm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3029520015 - Autosomal dominant dyskeratosis congenita (en) View
3029520015	en	Synonym (core metadata concept)	Autosomal dominant dyskeratosis congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3029387019 - Autosomal dominant dyskeratosis congenita (disorder) (en) View
3029387019	en	Fully specified name (core metadata concept)	Autosomal dominant dyskeratosis congenita (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12089849029) - 707273001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089850029) - 707273001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089851025) - 707273001 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089852021) - 707273001 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5993849022) - 707273001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5993850022) - 707273001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5993851021) - 707273001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525501029) - 707273001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5993847024) - 707273001 -> 2097009 (116676008) View
116676008 \|Associated morphology (attribute)\|	2097009 \|Dyskeratosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5993848025) - 707273001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017696020) - 707273001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6017697027) - 707273001 -> 2097009 (116676008) View
116676008 \|Associated morphology (attribute)\|	2097009 \|Dyskeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6017698021) - 707273001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5993845027) - 707273001 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5993846026) - 707273001 -> 74911008 (116680003) View
116680003 \|Is a (attribute)\|	74911008 \|Dyskeratosis congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
74911008 View
74911008	Dyskeratosis congenita (disorder)	Dyskeratosis congenita	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
723512008 View
723512008	Revesz syndrome (disorder)	Revesz 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 (a8704538-bcbd-530d-b248-99691b236608) 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)\|

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