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Terminology chevron_right Concepts chevron_right 789157007

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Component

789157007

The component that hold information about this concept.

Fully Specified Name (FSN)

Focal facial dermal dysplasia type i (disorder)

Shortest Term

Brauer 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

Focal facial dermal dysplasia type i (disorder)

SCTID: 789157007, Primitive, Active

789157007|Focal facial dermal dysplasia type i (disorder)|

en Bitemporal aplasia cutis congenita
en Brauer syndrome
en Ffdd type 1 - focal facial dermal dysplasia type 1
en Focal facial dermal dysplasia 1 brauer type
en Focal facial dermal dysplasia type i
en Focal facial dermal dysplasia type i (disorder)

Expression

789157007 |Focal facial dermal dysplasia type i (disorder)|
 <<< 363185004 |Hereditary disorder of the integument (disorder)| + 
789156003 |Focal facial dermal dysplasia (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3787370012 - Bitemporal aplasia cutis congenita (en) View
3787370012	en	Synonym (core metadata concept)	Bitemporal aplasia cutis congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3787367013 - Brauer syndrome (en) View
3787367013	en	Synonym (core metadata concept)	Brauer syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3787374015 - FFDD type 1 - focal facial dermal dysplasia type 1 (en) View
3787374015	en	Synonym (core metadata concept)	FFDD type 1 - focal facial dermal dysplasia type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3787369011 - Focal facial dermal dysplasia 1 Brauer type (en) View
3787369011	en	Synonym (core metadata concept)	Focal facial dermal dysplasia 1 Brauer type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3787366016 - Focal facial dermal dysplasia type I (en) View
3787366016	en	Synonym (core metadata concept)	Focal facial dermal dysplasia type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3787368015 - Focal facial dermal dysplasia type I (disorder) (en) View
3787368015	en	Fully specified name (core metadata concept)	Focal facial dermal dysplasia type I (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13070041029) - 789157007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101528023) - 789157007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101529026) - 789157007 -> 789156003 (116680003) View
116680003 \|Is a (attribute)\|	789156003 \|Focal facial dermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101530020) - 789157007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101531024) - 789157007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101532028) - 789157007 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101533022) - 789157007 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101534027) - 789157007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101535026) - 789157007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101536025) - 789157007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101537023) - 789157007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12101538029) - 789157007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
789156003 View
789156003	Focal facial dermal dysplasia (disorder)	Focal facial dermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	900000000000073002 \|Sufficiently defined by necessary conditions 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 (882127f3-4e5b-585c-a855-53377ca8f146) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8 \| 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)\|

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