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Terminology chevron_right Concepts chevron_right 698953004

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Component

698953004

The component that hold information about this concept.

Fully Specified Name (FSN)

Inherited aminoaciduria (disorder)

Shortest Term

Inherited aminoaciduria

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

Inherited aminoaciduria (disorder)

SCTID: 698953004, Defined, Active

698953004|Inherited aminoaciduria (disorder)|

en Inherited aminoaciduria
en Inherited aminoaciduria (disorder)

Expression

698953004 |Inherited aminoaciduria (disorder)|
 === 35912001 |Aminoaciduria (disorder)| + 
1821000146108 |Hereditary metabolic disease (disorder)| : 
        { 363714003 |Interprets (attribute)| = 364687002 |Urine observable (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 442497007 |Measurement of amino acid in urine (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2981569019 - Inherited aminoaciduria (en) View
2981569019	en	Synonym (core metadata concept)	Inherited aminoaciduria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2981621014 - Inherited aminoaciduria (disorder) (en) View
2981621014	en	Fully specified name (core metadata concept)	Inherited aminoaciduria (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16277840020) - 698953004 -> 364687002 (363714003) View
363714003 \|Interprets (attribute)\|	364687002 \|Urine observable (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16284927029) - 698953004 -> 442497007 (363714003) View
363714003 \|Interprets (attribute)\|	442497007 \|Measurement of amino acid in urine (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16284928023) - 698953004 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4770642026) - 698953004 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15281265022) - 698953004 -> 1821000146108 (116680003) View
116680003 \|Is a (attribute)\|	1821000146108 \|Hereditary metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4770643020) - 698953004 -> 35912001 (116680003) View
116680003 \|Is a (attribute)\|	35912001 \|Aminoaciduria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
35912001 View
35912001	Aminoaciduria (disorder)	Aminoaciduria	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1821000146108 View
1821000146108	Hereditary metabolic disease (disorder)	Hereditary metabolic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
733466005 View
733466005	Camptodactyly taurinuria syndrome (disorder)	Camptodactyly taurinuria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716747007 View
716747007	Dicarboxylic aminoaciduria syndrome (disorder)	Dicarboxylic aminoaciduria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
709282004 View
709282004	Deficiency of aminoacylase 1 (disorder)	Aminoacylase 1 deficiency	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 (96a89591-63ef-5272-9b95-3722fcc8f122) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.9	TRUE	ALWAYS E72.9	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)\|

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