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Terminology chevron_right Concepts chevron_right 65419005

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Component

65419005

The component that hold information about this concept.

Fully Specified Name (FSN)

Sitosterolemia with xanthomatosis (disorder)

Shortest Term

Beta-sitosterolemia

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

Sitosterolemia with xanthomatosis (disorder)

SCTID: 65419005, Primitive, Active

65419005|Sitosterolemia with xanthomatosis (disorder)|

en Beta-sitosterolaemia
en Sitosterolaemia with xanthomatosis
en Sitosterolaemic xanthomatosis
en Sitosterolemia with xanthomatosis
en Sitosterolemia with xanthomatosis (disorder)
en Sitosterolemic xanthomatosis
en Beta-sitosterolemia

Expression

65419005 |Sitosterolemia with xanthomatosis (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
63103006 |Xanthomatosis (disorder)| + 
58618005 |Familial disease with storage of sterols (other than cholesterol) (disorder)| + 
238104009 |Sitosterolemia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 75594004 |Xanthomatous deposition (morphologic abnormality)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
500113016 - Beta-sitosterolaemia (en) View
500113016	en	Synonym (core metadata concept)	Beta-sitosterolaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
500114010 - Sitosterolaemia with xanthomatosis (en) View
500114010	en	Synonym (core metadata concept)	Sitosterolaemia with xanthomatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
500112014 - Sitosterolaemic xanthomatosis (en) View
500112014	en	Synonym (core metadata concept)	Sitosterolaemic xanthomatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
108692016 - Sitosterolemia with xanthomatosis (en) View
108692016	en	Synonym (core metadata concept)	Sitosterolemia with xanthomatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
804920018 - Sitosterolemia with xanthomatosis (disorder) (en) View
804920018	en	Fully specified name (core metadata concept)	Sitosterolemia with xanthomatosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
108694015 - Sitosterolemic xanthomatosis (en) View
108694015	en	Synonym (core metadata concept)	Sitosterolemic xanthomatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
108693014 - beta-Sitosterolemia (en) View
108693014	en	Synonym (core metadata concept)	beta-Sitosterolemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (837064027) - 65419005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1679887027) - 65419005 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15816262021) - 65419005 -> 75594004 (116676008) View
116676008 \|Associated morphology (attribute)\|	75594004 \|Xanthomatous deposition (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (837063022) - 65419005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3221837029) - 65419005 -> 238104009 (116680003) View
116680003 \|Is a (attribute)\|	238104009 \|Sitosterolemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1679888021) - 65419005 -> 38164009 (116680003) View
116680003 \|Is a (attribute)\|	38164009 \|Congenital anomaly of integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (254480022) - 65419005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (254481021) - 65419005 -> 63103006 (116680003) View
116680003 \|Is a (attribute)\|	63103006 \|Xanthomatosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (254482025) - 65419005 -> 58618005 (116680003) View
116680003 \|Is a (attribute)\|	58618005 \|Familial disease with storage of sterols (other than cholesterol) (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
63103006 View
63103006	Xanthomatosis (disorder)	Xanthoma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
58618005 View
58618005	Familial disease with storage of sterols (other than cholesterol) (disorder)	Familial disease with storage of sterols (other than cholesterol)	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238104009 View
238104009	Sitosterolemia (disorder)	Sitosterolemia	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 (6d1162ee-724c-5b34-94ce-b87ad139bf76) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E78.0	TRUE	ALWAYS E78.0	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 (979b0eba-83e1-54d5-8789-b44e3b4030db) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.5	TRUE	ALWAYS E75.5	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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