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Terminology chevron_right Concepts chevron_right 78311009

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Component

78311009

The component that hold information about this concept.

Fully Specified Name (FSN)

Histidine transport defect (disorder)

Shortest Term

Histidinuria

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

Histidine transport defect (disorder)

SCTID: 78311009, Primitive, Active

78311009|Histidine transport defect (disorder)|

vi Khiếm khuyết vận chuyển histidine
en Histidine transport defect
en Histidine transport defect (disorder)
en Histidinuria
en Hyperhistidinuria
en Renal histidinuria

Expression

78311009 |Histidine transport defect (disorder)|
 <<< 44176004 |Disorder of histidine metabolism (disorder)| + 
16784003 |Amino acid transport disorder (disorder)| + 
236470002 |Specific renal tubule transport defect (disorder)| + 
106000008 |Metabolic renal disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4231000269117 - khiếm khuyết vận chuyển Histidine (vi) View
4231000269117	vi	Synonym (core metadata concept)	khiếm khuyết vận chuyển Histidine	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
129952019 - Histidine transport defect (en) View
129952019	en	Synonym (core metadata concept)	Histidine transport defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
819238016 - Histidine transport defect (disorder) (en) View
819238016	en	Fully specified name (core metadata concept)	Histidine transport defect (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
129954018 - Histidinuria (en) View
129954018	en	Synonym (core metadata concept)	Histidinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
129953012 - Hyperhistidinuria (en) View
129953012	en	Synonym (core metadata concept)	Hyperhistidinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
129955017 - Renal histidinuria (en) View
129955017	en	Synonym (core metadata concept)	Renal histidinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15058002026) - 78311009 -> 106000008 (116680003) View
116680003 \|Is a (attribute)\|	106000008 \|Metabolic renal disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (869835022) - 78311009 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (275332028) - 78311009 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (869836023) - 78311009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (275330020) - 78311009 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (275331024) - 78311009 -> 44176004 (116680003) View
116680003 \|Is a (attribute)\|	44176004 \|Disorder of histidine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (275333022) - 78311009 -> 16784003 (116680003) View
116680003 \|Is a (attribute)\|	16784003 \|Amino acid transport disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (275334027) - 78311009 -> 236470002 (116680003) View
116680003 \|Is a (attribute)\|	236470002 \|Specific renal tubule transport defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
106000008 View
106000008	Metabolic renal disease (disorder)	Metabolic renal disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
16784003 View
16784003	Amino acid transport disorder (disorder)	Amino acid transport disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
44176004 View
44176004	Disorder of histidine metabolism (disorder)	Disorder of histidine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
236470002 View
236470002	Specific renal tubule transport defect (disorder)	Specific renal tubule transport defect	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 (91b2fd71-f86d-56ef-9479-9df4559c6a14) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.8	TRUE	ALWAYS E70.8	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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