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Terminology chevron_right Concepts chevron_right 84193000

Production

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Component

84193000

The component that hold information about this concept.

Fully Specified Name (FSN)

Alpha, alpha-trehalase deficiency (disorder)

Shortest Term

Trehalase deficiency

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

Alpha, alpha-trehalase deficiency (disorder)

SCTID: 84193000, Primitive, Active

84193000|Alpha, alpha-trehalase deficiency (disorder)|

en Trehalase deficiency (disorder)
en Trehalose intolerance
en Alpha, alpha-trehalase deficiency
en Trehalase deficiency

Expression

84193000 |Alpha, alpha-trehalase deficiency (disorder)|
 <<< 54905006 |Disorder of carbohydrate transport (disorder)| + 
237972006 |Disorder of carbohydrate absorption (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| + 
129456006 |Specific enzyme deficiency (disorder)| + 
1899006 |Autosomal hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
139626015 - alpha, alpha-Trehalase deficiency (en) View
139626015	en	Synonym (core metadata concept)	alpha, alpha-Trehalase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
825985012 - alpha, alpha-Trehalase deficiency (disorder) (en) View
825985012	en	Fully specified name (core metadata concept)	alpha, alpha-Trehalase deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
4636710019 - Trehalase deficiency (disorder) (en) View
4636710019	en	Fully specified name (core metadata concept)	Trehalase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
139627012 - Trehalose intolerance (en) View
139627012	en	Synonym (core metadata concept)	Trehalose intolerance	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1234911010 - Alpha, alpha-trehalase deficiency (en) View
1234911010	en	Synonym (core metadata concept)	Alpha, alpha-trehalase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
201127011 - Trehalase deficiency (en) View
201127011	en	Synonym (core metadata concept)	Trehalase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (285141020) - 84193000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14022158022) - 84193000 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (884576027) - 84193000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (285140021) - 84193000 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (884575028) - 84193000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2551772025) - 84193000 -> 129456006 (116680003) View
116680003 \|Is a (attribute)\|	129456006 \|Specific enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (285139024) - 84193000 -> 54905006 (116680003) View
116680003 \|Is a (attribute)\|	54905006 \|Disorder of carbohydrate transport (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (285142029) - 84193000 -> 237972006 (116680003) View
116680003 \|Is a (attribute)\|	237972006 \|Disorder of carbohydrate absorption (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (285143023) - 84193000 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54905006 View
54905006	Disorder of carbohydrate transport (disorder)	Disorder of carbohydrate transport	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129456006 View
129456006	Specific enzyme deficiency (disorder)	Specific enzyme deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237972006 View
237972006	Disorder of carbohydrate absorption (disorder)	Disorder of carbohydrate absorption	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 (22f64c91-4b1d-5601-8194-1013ce00ba11) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.3	TRUE	ALWAYS E74.3	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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