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Terminology chevron_right Concepts chevron_right 87006007

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Dominant autosomal hereditary disorder, incomplete penetrance (disorder)

Shortest Term

Dominant autosomal hereditary disorder, incomplete penetrance

Definition Status

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

Summary

Dominant autosomal hereditary disorder, incomplete penetrance (disorder)

SCTID: 87006007, Primitive, Active

87006007|Dominant autosomal hereditary disorder, incomplete penetrance (disorder)|

Expression

87006007 |Dominant autosomal hereditary disorder, incomplete penetrance (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
144293012 - Dominant autosomal hereditary disorder, incomplete penetrance (en) View
144293012	en	Synonym (core metadata concept)	Dominant autosomal hereditary disorder, incomplete penetrance	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
829389018 - Dominant autosomal hereditary disorder, incomplete penetrance (disorder) (en) View
829389018	en	Fully specified name (core metadata concept)	Dominant autosomal hereditary disorder, incomplete penetrance (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (290034027) - 87006007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
789159005 View
789159005	Focal facial dermal dysplasia type ii (disorder)	Focal facial dermal dysplasia type ii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768471006 View
768471006	16p12.2 microdeletion syndrome (disorder)	16p12.2 microdeletion	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722203001 View
722203001	Palmoplantar keratoderma with deafness syndrome (disorder)	Palmoplantar keratoderma with deafness 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 (e5949970-d3e5-5337-9a39-916c911e6ff2) 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)\|

Descriptions